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    RABGAP1L RAB GTPase activating protein 1 like [ Homo sapiens (human) ]

    Gene ID: 9910, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RABGAP1Lprovided by HGNC
    Official Full Name
    RAB GTPase activating protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:24663
    See related
    Ensembl:ENSG00000152061 MIM:609238; AllianceGenome:HGNC:24663
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHL; TBC1D18
    Summary
    Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in several cellular components, including Golgi apparatus; cilium; and early endosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in heart (RPKM 7.5), brain (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RABGAP1L in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (174159520..174995308)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (173517499..174349063)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (174128658..174964445)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1560 Neighboring gene Sharpr-MPRA regulatory region 797 Neighboring gene RABGAP1L divergent transcript Neighboring gene RNA, U7 small nuclear 78 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1562 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:174207528-174208157 Neighboring gene MPRA-validated peak467 silencer Neighboring gene forty-two-three domain containing 1 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:174352088-174352652 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:174472688-174472877 Neighboring gene G protein-coupled receptor 52 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:174564621-174565222 Neighboring gene Sharpr-MPRA regulatory region 10542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2124 Neighboring gene BANF1 pseudogene 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:174817888-174819087 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:174871033-174871534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2125 Neighboring gene RABGAP1L antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 12 Neighboring gene uncharacterized LOC105371622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:174968357-174968892 Neighboring gene RNA, U6 small nuclear 307, pseudogene Neighboring gene calcyclin binding protein

    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. Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease? de Yebra L, et al. Hum Mol Genet, 2004 Nov 1. PMID 15367492
    2. Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women. Kim JH, et al. Arthritis Rheum, 2013 Apr. PMID 23335107
    3. Gene trapping of two novel genes, Hzf and Hhl, expressed in hematopoietic cells. Hidaka M, et al. Mech Dev, 2000 Jan. PMID 10585558
    4. Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes. Speek M. Mol Cell Biol, 2001 Mar. PMID 11238933, Free PMC Article
    5. Restriction factor screening identifies RABGAP1L-mediated disruption of endocytosis as a host antiviral defense. Fernbach S, et al. Cell Rep, 2022 Mar 22. PMID 35320721, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion variants of RABGAP1L were found to be significantly associated with SLE in Korean women.
      Title: Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
    4. KIAA0471 mRNA expression is reduced in Alzheimer patients.
      Title: Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    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

    • FLJ58037, FLJ79118, FLJ79254, DKFZp686E1450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rab GTPase-activating protein 1-like
    Names
    TBC1 domain family, member 18
    expressed in hematopoietic cells, heart, liver (HLL)

    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.

    mRNA and Protein(s)

    1. NM_001035230.3 → NP_001030307.1  rab GTPase-activating protein 1-like isoform B

      See identical proteins and their annotated locations for NP_001030307.1

      Status: VALIDATED

      Source sequence(s)
      BC012094, DB232940
      Consensus CDS
      CCDS41437.1
      UniProtKB/Swiss-Prot
      Q5R372
      Related
      ENSP00000432490.1, ENST00000486220.5

    2. NM_001243763.2 → NP_001230692.1  rab GTPase-activating protein 1-like isoform B

      See identical proteins and their annotated locations for NP_001230692.1

      Status: VALIDATED

      Source sequence(s)
      AL049701, BG193682, BQ277581
      Consensus CDS
      CCDS41437.1
      UniProtKB/Swiss-Prot
      Q5R372
      UniProtKB/TrEMBL
      Q9Y3L8
      Related
      ENSP00000434600.1, ENST00000478442.5

    3. NM_001243764.2 → NP_001230693.1  rab GTPase-activating protein 1-like isoform D

      See identical proteins and their annotated locations for NP_001230693.1

      Status: VALIDATED

      Source sequence(s)
      AA836500, AK316355, Z99127
      Consensus CDS
      CCDS55662.1
      UniProtKB/Swiss-Prot
      B7ZAA4, B7ZAP0
      UniProtKB/TrEMBL
      B4DQA5
      Related
      ENSP00000356661.3, ENST00000367688.3
      Conserved Domains (1) summary
      COG1196
      Location:12 → 222
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    4. NM_001243765.2 → NP_001230694.1  rab GTPase-activating protein 1-like isoform C

      See identical proteins and their annotated locations for NP_001230694.1

      Status: VALIDATED

      Source sequence(s)
      AA836500, AB007940, AL161671, Z99127
      Consensus CDS
      CCDS58046.1
      UniProtKB/Swiss-Prot
      Q5R372
      Related
      ENSP00000420660.1, ENST00000489615.5
      Conserved Domains (1) summary
      TIGR02168
      Location:113 → 322
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    5. NM_001330989.2 → NP_001317918.1  rab GTPase-activating protein 1-like isoform E

      Status: VALIDATED

      Source sequence(s)
      AL008735, AL161671, Z99127
      Consensus CDS
      CCDS81407.1
      UniProtKB/TrEMBL
      F5H8L0, Q6AI42
      Related
      ENSP00000375916.2, ENST00000392064.6

    6. NM_001366445.1 → NP_001353374.1  rab GTPase-activating protein 1-like isoform F

      Status: VALIDATED

      Source sequence(s)
      AL021069, AL022171, AL022400, AL031286
      Consensus CDS
      CCDS91110.1
      UniProtKB/TrEMBL
      A0A0C4DG54
      Related
      ENSP00000350027.6, ENST00000357444.10
      Conserved Domains (3) summary
      cd01211
      Location:92 → 220
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:253 → 384
      DUF3694; Kinesin protein
      cl02495
      Location:498 → 532
      RabGAP-TBC; Rab-GTPase-TBC domain

    7. NM_001366446.1 → NP_001353375.1  rab GTPase-activating protein 1-like isoform G

      Status: VALIDATED

      Source sequence(s)
      AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
      Consensus CDS
      CCDS91111.1
      UniProtKB/TrEMBL
      A0A804HKD7
      Related
      ENSP00000507884.1, ENST00000681986.1
      Conserved Domains (4) summary
      cd01211
      Location:129 → 257
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00566
      Location:541 → 744
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:290 → 421
      DUF3694; Kinesin protein
      cl26472
      Location:800 → 1018
      DUF3084; Protein of unknown function (DUF3084)

    8. NM_001366447.1 → NP_001353376.1  rab GTPase-activating protein 1-like isoform H

      Status: VALIDATED

      Source sequence(s)
      AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
      Conserved Domains (3) summary
      cd01211
      Location:92 → 220
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00566
      Location:504 → 707
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:253 → 384
      DUF3694; Kinesin protein

    9. NM_001366448.1 → NP_001353377.1  rab GTPase-activating protein 1-like isoform I

      Status: VALIDATED

      Source sequence(s)
      AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127
      Conserved Domains (3) summary
      cd01211
      Location:129 → 257
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00566
      Location:541 → 744
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:290 → 421
      DUF3694; Kinesin protein

    10. NM_001366449.1 → NP_001353378.1  rab GTPase-activating protein 1-like isoform J

      Status: VALIDATED

      Source sequence(s)
      BC062541, BU934486
      Consensus CDS
      CCDS91112.1
      UniProtKB/TrEMBL
      A0A0U1RRM5
      Related
      ENSP00000489605.1, ENST00000367690.5
      Conserved Domains (2) summary
      cl02495
      Location:182 → 221
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:3 → 68
      DUF3694; Kinesin protein

    11. NM_001366450.1 → NP_001353379.1  rab GTPase-activating protein 1-like isoform K

      Status: VALIDATED

      Source sequence(s)
      AB019493, Z99127
      Consensus CDS
      CCDS91115.1
      Related
      ENSP00000318603.5, ENST00000325589.9
      Conserved Domains (2) summary
      cl02495
      Location:1 → 51
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25732
      Location:101 → 310
      SMC_N; RecF/RecN/SMC N terminal domain

    12. NM_001366451.1 → NP_001353380.1  rab GTPase-activating protein 1-like isoform L

      Status: VALIDATED

      Source sequence(s)
      AB019490, AB019493, Z99127
      UniProtKB/TrEMBL
      B4DQA5, Q9Y6Y7
      Conserved Domains (1) summary
      cl25732
      Location:8 → 225
      SMC_N; RecF/RecN/SMC N terminal domain

    13. NM_001366452.1 → NP_001353381.1  rab GTPase-activating protein 1-like isoform M

      Status: VALIDATED

      Source sequence(s)
      AB019491, DB088774, Z99127
      Consensus CDS
      CCDS91113.1
      Related
      ENSP00000281844.5, ENST00000347255.6
      Conserved Domains (2) summary
      pfam00566
      Location:1 → 71
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl25732
      Location:121 → 330
      SMC_N; RecF/RecN/SMC N terminal domain

    14. NM_001366453.1 → NP_001353382.1  rab GTPase-activating protein 1-like isoform N

      Status: VALIDATED

      Source sequence(s)
      AL136377, AL161671, Z99127
      Conserved Domains (1) summary
      pfam00566
      Location:2 → 70
      RabGAP-TBC; Rab-GTPase-TBC domain

    15. NM_001366454.1 → NP_001353383.1  rab GTPase-activating protein 1-like isoform O

      Status: VALIDATED

      Source sequence(s)
      AL008735, AL161671, Z99127

    16. NM_001366455.1 → NP_001353384.1  rab GTPase-activating protein 1-like isoform P

      Status: VALIDATED

      Source sequence(s)
      AL161671, Z99127

    17. NM_001366456.1 → NP_001353385.1  rab GTPase-activating protein 1-like isoform Q

      Status: VALIDATED

      Source sequence(s)
      AL161671, Z99127

    18. NM_001366457.1 → NP_001353386.1  rab GTPase-activating protein 1-like isoform R

      Status: VALIDATED

      Source sequence(s)
      AL008735, Z99127
      UniProtKB/TrEMBL
      B4DQA5, Q9UEL5
      Conserved Domains (1) summary
      cl25732
      Location:17 → 225
      SMC_N; RecF/RecN/SMC N terminal domain

    19. NM_014857.5 → NP_055672.3  rab GTPase-activating protein 1-like isoform A

      See identical proteins and their annotated locations for NP_055672.3

      Status: VALIDATED

      Source sequence(s)
      AB449904, AK095838, BC012094, DB087378
      Consensus CDS
      CCDS1314.1
      UniProtKB/Swiss-Prot
      O75059, Q3ZTR8, Q5R369, Q5R372, Q8IVV0, Q8N921, Q8WV78, Q9NSP8, Q9UQ19, Q9UQP5, Q9Y6Y5, Q9Y6Y6
      UniProtKB/TrEMBL
      F1LJ00
      Related
      ENSP00000251507.4, ENST00000251507.8
      Conserved Domains (3) summary
      cd01211
      Location:129 → 257
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00566
      Location:541 → 744
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:340 → 421
      DUF3694; Kinesin protein

    RNA

    1. NR_158981.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL022400, AL031286
      Related
      ENST00000635248.1

    2. NR_158982.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL008735, AL022171, AL022400, AL031286, AL136377, AL161671, AL591108, Z99127

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      174159520..174995308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510223.3 → XP_011508525.1  rab GTPase-activating protein 1-like isoform X1

      See identical proteins and their annotated locations for XP_011508525.1

      UniProtKB/TrEMBL
      A0A804HKD7
      Conserved Domains (4) summary
      cd01211
      Location:129 → 257
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00566
      Location:541 → 744
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:290 → 421
      DUF3694; Kinesin protein
      cl26472
      Location:800 → 1018
      DUF3084; Protein of unknown function (DUF3084)

    2. XM_047436028.1 → XP_047291984.1  rab GTPase-activating protein 1-like isoform X2

    3. XM_005245681.3 → XP_005245738.1  rab GTPase-activating protein 1-like isoform X2

      Conserved Domains (3) summary
      cd01211
      Location:92 → 220
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00566
      Location:504 → 707
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam12473
      Location:303 → 384
      DUF3694; Kinesin protein

    4. XM_047436039.1 → XP_047291995.1  rab GTPase-activating protein 1-like isoform X3

    5. XM_047436050.1 → XP_047292006.1  rab GTPase-activating protein 1-like isoform X4

      UniProtKB/Swiss-Prot
      O75059, Q3ZTR8, Q5R369, Q5R372, Q8IVV0, Q8N921, Q8WV78, Q9NSP8, Q9UQ19, Q9UQP5, Q9Y6Y5, Q9Y6Y6
      UniProtKB/TrEMBL
      F1LJ00

    6. XM_047436057.1 → XP_047292013.1  rab GTPase-activating protein 1-like isoform X6

    7. XM_047436056.1 → XP_047292012.1  rab GTPase-activating protein 1-like isoform X5

      Related
      ENSP00000356660.1, ENST00000367687.5

    8. XM_047436058.1 → XP_047292014.1  rab GTPase-activating protein 1-like isoform X7

    9. XM_047436059.1 → XP_047292015.1  rab GTPase-activating protein 1-like isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      173517499..174349063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339928.1 → XP_054195903.1  rab GTPase-activating protein 1-like isoform X1

      UniProtKB/TrEMBL
      A0A804HKD7

    2. XM_054339930.1 → XP_054195905.1  rab GTPase-activating protein 1-like isoform X2

    3. XM_054339929.1 → XP_054195904.1  rab GTPase-activating protein 1-like isoform X2

    4. XM_054339931.1 → XP_054195906.1  rab GTPase-activating protein 1-like isoform X3

    5. XM_054339932.1 → XP_054195907.1  rab GTPase-activating protein 1-like isoform X4

      UniProtKB/Swiss-Prot
      O75059, Q3ZTR8, Q5R369, Q5R372, Q8IVV0, Q8N921, Q8WV78, Q9NSP8, Q9UQ19, Q9UQP5, Q9Y6Y5, Q9Y6Y6
      UniProtKB/TrEMBL
      F1LJ00

    6. XM_054339934.1 → XP_054195909.1  rab GTPase-activating protein 1-like isoform X6

    7. XM_054339933.1 → XP_054195908.1  rab GTPase-activating protein 1-like isoform X5

    8. XM_054339935.1 → XP_054195910.1  rab GTPase-activating protein 1-like isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7ZAP0.1 GenPept UniProtKB/Swiss-Prot:B7ZAP0
    Q5R372.1 GenPept UniProtKB/Swiss-Prot:Q5R372

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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