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    LOXHD1 lipoxygenase homology PLAT domains 1 [ Homo sapiens (human) ]

    Gene ID: 125336, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LOXHD1provided by HGNC
    Official Full Name
    lipoxygenase homology PLAT domains 1provided by HGNC
    Primary source
    HGNC:HGNC:26521
    See related
    Ensembl:ENSG00000167210 MIM:613072; AllianceGenome:HGNC:26521
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LH2D1; DFNB77
    Summary
    This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Biased expression in testis (RPKM 2.9), bone marrow (RPKM 0.7) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LOXHD1 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46476961..46657220, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (46667522..46847775, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44056924..44237183, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C Neighboring gene uncharacterized LOC105372095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43972627-43973160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43991726-43992676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:43994577-43995525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44004729-44005693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44007521-44008096 Neighboring gene uncharacterized LOC124904293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44015273-44015773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44027257-44028040 Neighboring gene Sharpr-MPRA regulatory region 1203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44038097-44038886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:44044737-44045236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:44046140-44046972 Neighboring gene MPRA-validated peak3132 silencer Neighboring gene MPRA-validated peak3133 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44237431-44238380 Neighboring gene uncharacterized LOC105372096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44255923-44256770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44256771-44257616 Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44297037-44297823 Neighboring gene ribosomal protein S21 pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Edvardson S, et al. Am J Med Genet A, 2011 May. PMID 21465660
    2. Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1. Deng Q, et al. Cell Rep, 2022 Jun 14. PMID 35705030, Free PMC Article
    3. Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. Yu S, et al. Int J Pediatr Otorhinolaryngol, 2021 Jun. PMID 33892339
    4. Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s. Kim BJ, et al. J Med Genet, 2022 May. PMID 33753533
    5. Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. Bai X, et al. Biomed Res Int, 2020. PMID 32149082, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.
      Title: Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1.
    2. Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
      Title: Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
    3. Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
      Title: Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
    4. Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
      Title: Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
    5. The LOXHD1 variant c.1828G>A present in the wife had not previously been reported in individuals with congenital hearing loss.
      Title: A novel LOXHD1 variant in a Chinese couple with hearing loss.
    6. By analyzing the largest number of patients with LOXHD1 related hearing loss yet to be reported, we determined several characteristics of LOXHD1 variations, and recurrent variants
      Title: Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
    7. We hypothesize that environmental factors or genetic modifiers are responsible for phenotypic differences. No association was found between heterozygous LOXHD1 variants and the occurrence of Fuchs corneal dystrophy in carriers.
      Title: Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
    8. Results demonstrated that a novel missense variant, LOXHD1: c.5948C > T, was associated with non-progressive Deafness, autosomal recessive 77 in a Chinese family under consanguineous marriage.
      Title: Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
    9. While mutations in ZEB1 contributed to 2% of the late-onset Fuchs' endothelial corneal dystrophy (FECD) cases, the exact role of the two variant of uncertain significance (VUS) identified in ZEB1 and LOXHD1 in FECD pathogenesis needs to be studied.
      Title: Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.
    10. We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77.
      Title: Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 77
    MedGen: C2746083 OMIM: 613079 GeneReviews: Genetic Hearing Loss Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32670

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in stereocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    lipoxygenase homology domain-containing protein 1
    Names
    lipoxygenase homology domains 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016646.2 RefSeqGene

      Range
      4814..184761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145472.3 → NP_001138944.1  lipoxygenase homology domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing many exons from the 5' end, contains an additional in-frame coding exon, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC018931, AK127869, BC041860, BG722402, BX647229
      Consensus CDS
      CCDS45861.1
      UniProtKB/TrEMBL
      J3KRE7
      Related
      ENSP00000300591.6, ENST00000300591.11
      Conserved Domains (2) summary
      cd01756
      Location:64 → 184
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:1043 → 1102
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    2. NM_001145473.3 → NP_001138945.1  lipoxygenase homology domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001138945.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is missing many exons from the 5' end, and contains an alternate 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (3) compared to isoform 1.
      Source sequence(s)
      AK302484, BC041860, BC047720
      Consensus CDS
      CCDS45862.1
      UniProtKB/Swiss-Prot
      Q8IVV2
      UniProtKB/TrEMBL
      B7Z7T7
      Related
      ENSP00000381676.4, ENST00000398686.8
      Conserved Domains (2) summary
      cd01756
      Location:393 → 511
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:257 → 358
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    3. NM_001173129.2 → NP_001166600.1  lipoxygenase homology domain-containing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001166600.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing many exons from the 5' end, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (4) compared to isoform 1.
      Source sequence(s)
      AC018931, BC047720, BX647229
      Consensus CDS
      CCDS54184.1
      UniProtKB/Swiss-Prot
      Q8IVV2
      Related
      ENSP00000381692.2, ENST00000398705.7
      Conserved Domains (2) summary
      cd01756
      Location:124 → 244
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:393 → 457
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    4. NM_001308013.2 → NP_001294942.1  lipoxygenase homology domain-containing protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001294942.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) is missing many exons from the 5' end, lacks an in-frame coding exon, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (5) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC018931, BX647229
      Consensus CDS
      CCDS77182.1
      UniProtKB/TrEMBL
      J3KRE7, J3QKX9
      Related
      ENSP00000463285.1, ENST00000579038.6
      Conserved Domains (2) summary
      cd01756
      Location:253 → 373
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:3 → 88
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    5. NM_001384474.1 → NP_001371403.1  lipoxygenase homology domain-containing protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC018931, AC064800, AC091139
      Consensus CDS
      CCDS92455.1
      UniProtKB/Swiss-Prot
      B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
      UniProtKB/TrEMBL
      A0A2R8Y7K4
      Related
      ENSP00000496347.1, ENST00000642948.1
      Conserved Domains (2) summary
      cd01756
      Location:1022 → 1142
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:816 → 896
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    6. NM_144612.7 → NP_653213.6  lipoxygenase homology domain-containing protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC018931, AC064800, AC091139, AK127869, AK302484, BC041860, BX647229, DR731345, DR731346
      Consensus CDS
      CCDS11929.2
      UniProtKB/Swiss-Prot
      B7WNN3, B7WNT1, B7WPI9, H7BZ41, Q6ZRY7, Q86WW9, Q8IVV2, Q96DL7
      UniProtKB/TrEMBL
      F5GZB4
      Related
      ENSP00000444586.1, ENST00000536736.5
      Conserved Domains (2) summary
      cd01756
      Location:1022 → 1142
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:816 → 896
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      46476961..46657220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437289.1 → XP_047293245.1  lipoxygenase homology domain-containing protein 1 isoform X1

    2. XM_011525804.3 → XP_011524106.1  lipoxygenase homology domain-containing protein 1 isoform X5

      Conserved Domains (2) summary
      cd01756
      Location:409 → 529
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:203 → 283
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    3. XM_006722391.4 → XP_006722454.1  lipoxygenase homology domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      B7Z7T7
      Related
      ENSP00000461964.1, ENST00000582408.6
      Conserved Domains (2) summary
      cd01756
      Location:1025 → 1143
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:6 → 75
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    4. XM_006722388.4 → XP_006722451.1  lipoxygenase homology domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B7Z7T7
      Conserved Domains (2) summary
      cd01756
      Location:1087 → 1205
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:6 → 75
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    5. XM_024451088.2 → XP_024306856.1  lipoxygenase homology domain-containing protein 1 isoform X12

      UniProtKB/TrEMBL
      J3KRE7
      Conserved Domains (2) summary
      cd01756
      Location:947 → 1065
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:3 → 88
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    6. XM_024451086.2 → XP_024306854.1  lipoxygenase homology domain-containing protein 1 isoform X12

      UniProtKB/TrEMBL
      J3KRE7
      Conserved Domains (2) summary
      cd01756
      Location:947 → 1065
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:3 → 88
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    7. XM_024451085.2 → XP_024306853.1  lipoxygenase homology domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      J3KRE7
      Conserved Domains (2) summary
      cd01756
      Location:1042 → 1160
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:517 → 632
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    8. XM_011525810.3 → XP_011524112.1  lipoxygenase homology domain-containing protein 1 isoform X13

      Conserved Domains (2) summary
      cd01756
      Location:410 → 528
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:274 → 375
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    9. XM_011525811.3 → XP_011524113.1  lipoxygenase homology domain-containing protein 1 isoform X14

      See identical proteins and their annotated locations for XP_011524113.1

      UniProtKB/Swiss-Prot
      Q8IVV2
      Conserved Domains (2) summary
      cd01756
      Location:393 → 511
      PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.
      cl00011
      Location:257 → 358
      PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

    10. XM_047437290.1 → XP_047293246.1  lipoxygenase homology domain-containing protein 1 isoform X2

    11. XM_047437291.1 → XP_047293247.1  lipoxygenase homology domain-containing protein 1 isoform X3

    12. XM_047437292.1 → XP_047293248.1  lipoxygenase homology domain-containing protein 1 isoform X4

    13. XM_047437293.1 → XP_047293249.1  lipoxygenase homology domain-containing protein 1 isoform X6

      Related
      ENST00000335730.6

    14. XM_047437295.1 → XP_047293251.1  lipoxygenase homology domain-containing protein 1 isoform X9

    15. XM_047437294.1 → XP_047293250.1  lipoxygenase homology domain-containing protein 1 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      46667522..46847775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318177.1 → XP_054174152.1  lipoxygenase homology domain-containing protein 1 isoform X16

    2. XM_054318176.1 → XP_054174151.1  lipoxygenase homology domain-containing protein 1 isoform X15

    3. XM_054318181.1 → XP_054174156.1  lipoxygenase homology domain-containing protein 1 isoform X5

    4. XM_054318187.1 → XP_054174162.1  lipoxygenase homology domain-containing protein 1 isoform X11

    5. XM_054318184.1 → XP_054174159.1  lipoxygenase homology domain-containing protein 1 isoform X8

    6. XM_054318189.1 → XP_054174164.1  lipoxygenase homology domain-containing protein 1 isoform X12

    7. XM_054318188.1 → XP_054174163.1  lipoxygenase homology domain-containing protein 1 isoform X12

    8. XM_054318186.1 → XP_054174161.1  lipoxygenase homology domain-containing protein 1 isoform X10

    9. XM_054318190.1 → XP_054174165.1  lipoxygenase homology domain-containing protein 1 isoform X13

    10. XM_054318191.1 → XP_054174166.1  lipoxygenase homology domain-containing protein 1 isoform X14

    11. XM_054318178.1 → XP_054174153.1  lipoxygenase homology domain-containing protein 1 isoform X2

    12. XM_054318179.1 → XP_054174154.1  lipoxygenase homology domain-containing protein 1 isoform X3

    13. XM_054318180.1 → XP_054174155.1  lipoxygenase homology domain-containing protein 1 isoform X4

    14. XM_054318182.1 → XP_054174157.1  lipoxygenase homology domain-containing protein 1 isoform X6

    15. XM_054318185.1 → XP_054174160.1  lipoxygenase homology domain-containing protein 1 isoform X9

    16. XM_054318183.1 → XP_054174158.1  lipoxygenase homology domain-containing protein 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVV2.4 GenPept UniProtKB/Swiss-Prot:Q8IVV2

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