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    AMMECR1L AMMECR1 like [ Homo sapiens (human) ]

    Gene ID: 83607, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AMMECR1Lprovided by HGNC
    Official Full Name
    AMMECR1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:28658
    See related
    Ensembl:ENSG00000144233 AllianceGenome:HGNC:28658
    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
    Summary
    Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), gall bladder (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMMECR1L in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127861630..127885956, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128296887..128321215, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128619204..128643530, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 395, pseudogene Neighboring gene RNA polymerase II subunit D Neighboring gene ribosomal protein S26 pseudogene 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11937 Neighboring gene uncharacterized LOC107985803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:128643401-128643996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11941 Neighboring gene uncharacterized LOC107985944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128663380-128663880 Neighboring gene archaelysin family metallopeptidase 2 pseudogene

    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. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Moysés-Oliveira M, et al. Hum Mutat, 2018 Feb. PMID 29193635
    2. Biochemical and computational analysis of LNX1 interacting proteins. Wolting CD, et al. PLoS One, 2011. PMID 22087225, Free PMC Article
    3. Expanding the substantial interactome of NEMO using protein microarrays. Fenner BJ, et al. PLoS One, 2010 Jan 20. PMID 20098747, Free PMC Article
    4. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article
    5. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • MGC4268, FLJ38552

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    AMMECR1-like protein
    Names
    AMME chromosomal region gene 1-like

    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_001199140.2 → NP_001186069.1  AMMECR1-like protein isoform 1

      See identical proteins and their annotated locations for NP_001186069.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same protein, as compared to variant 1.
      Source sequence(s)
      AC012306
      Consensus CDS
      CCDS2152.1
      UniProtKB/Swiss-Prot
      B4E276, Q6DCA0
      Related
      ENSP00000272647.6, ENST00000272647.10
      Conserved Domains (1) summary
      pfam01871
      Location:110 → 279
      AMMECR1

    2. NM_001410953.1 → NP_001397882.1  AMMECR1-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012306
      Consensus CDS
      CCDS92865.1
      UniProtKB/TrEMBL
      A0A7P0Z454
      Related
      ENSP00000505104.1, ENST00000681844.1

    3. NM_001410954.1 → NP_001397883.1  AMMECR1-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012306
      Consensus CDS
      CCDS92863.1
      UniProtKB/TrEMBL
      A0A7P0T9C2
      Related
      ENSP00000505606.1, ENST00000680886.1

    4. NM_031445.2 → NP_113633.2  AMMECR1-like protein isoform 1

      See identical proteins and their annotated locations for NP_113633.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      BC016181
      Consensus CDS
      CCDS2152.1
      UniProtKB/Swiss-Prot
      B4E276, Q6DCA0
      Related
      ENSP00000376726.1, ENST00000393001.1
      Conserved Domains (1) summary
      pfam01871
      Location:110 → 279
      AMMECR1

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      127861630..127885956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263806.6 → XP_005263863.1  AMMECR1-like protein isoform X1

      See identical proteins and their annotated locations for XP_005263863.1

      Conserved Domains (1) summary
      cl00911
      Location:137 → 287
      AMMECR1

    2. XM_011511956.4 → XP_011510258.1  AMMECR1-like protein isoform X3

      UniProtKB/TrEMBL
      A0A7P0Z4N3
      Conserved Domains (1) summary
      cl00911
      Location:109 → 172
      AMMECR1; AMMECR1

    3. XM_017005063.3 → XP_016860552.1  AMMECR1-like protein isoform X4

      UniProtKB/TrEMBL
      A0A7P0Z4N3

    4. XM_047445956.1 → XP_047301912.1  AMMECR1-like protein isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAB6
      Related
      ENSP00000505484.1, ENST00000680246.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      128296887..128321215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344108.1 → XP_054200083.1  AMMECR1-like protein isoform X1

    2. XM_054344110.1 → XP_054200085.1  AMMECR1-like protein isoform X3

    3. XM_054344111.1 → XP_054200086.1  AMMECR1-like protein isoform X4

    4. XM_054344109.1 → XP_054200084.1  AMMECR1-like protein isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAB6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DCA0.1 GenPept UniProtKB/Swiss-Prot:Q6DCA0

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