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AMMECR1L AMMECR1 like [ Homo sapiens (human) ]

Gene ID: 83607, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 10.0), gall bladder (RPKM 6.0) and 25 other tissues See more
Orthologs
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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

Gene LinkOut

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