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AIM1 absent in melanoma 1 [ Homo sapiens (human) ]

Gene ID: 202, updated on 8-May-2016
Official Symbol
AIM1provided by HGNC
Official Full Name
absent in melanoma 1provided by HGNC
Primary source
HGNC:HGNC:356
See related
Ensembl:ENSG00000112297 HPRD:18576; MIM:601797; Vega:OTTHUMG00000015302
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
ST4; CRYBG1
Orthologs
Location:
6q21
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (106360808..106570451)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (106808683..107018335)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene PR domain 1 Neighboring gene autophagy related 5 Neighboring gene uncharacterized LOC105377924 Neighboring gene RNA, 5S ribosomal pseudogene 211 Neighboring gene uncharacterized LOC101927405 Neighboring gene uncharacterized LOC105377925 Neighboring gene reticulon 4 interacting protein 1 Neighboring gene ribosomal protein L21 pseudogene 65 Neighboring gene glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
NHGRI GWA Catalog
Genome-wide association with select biomarker traits in the Framingham Heart Study.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
Preferred Names
absent in melanoma 1 protein
Names
beta-gamma crystallin domain containing 1
beta/gamma crystallin domain-containing protein 1
suppression of tumorigenicity 4 (malignant melanoma)

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_001624.3NP_001615.2  absent in melanoma 1 protein

    See identical proteins and their annotated locations for NP_001615.2

    Status: VALIDATED

    Source sequence(s)
    AK056705, AL359292, AL390074, U83115
    Consensus CDS
    CCDS34506.1
    UniProtKB/Swiss-Prot
    Q9Y4K1
    UniProtKB/TrEMBL
    B3KPT0
    Related
    ENSP00000358062, ENST00000369066
    Conserved Domains (5) summary
    smart00247
    Location:10231114
    XTALbg; Beta/gamma crystallins
    PHA03249
    Location:36162
    PHA03249; DNA packaging tegument protein UL25; Provisional
    cd00161
    Location:15891717
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00030
    Location:12191312
    Crystall; Beta/Gamma crystallin
    pfam00652
    Location:15881716
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    106360808..106570451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266839.2XP_005266896.1  

    UniProtKB/TrEMBL
    A0A0J9YWL0
    Related
    ENSP00000488010, OTTHUMP00000016924, ENST00000633556, OTTHUMT00000041669
    Conserved Domains (5) summary
    smart00247
    Location:14311522
    XTALbg; Beta/gamma crystallins
    PHA03249
    Location:444570
    PHA03249; DNA packaging tegument protein UL25; Provisional
    cd00161
    Location:19972125
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00030
    Location:16271720
    Crystall; Beta/Gamma crystallin
    pfam00652
    Location:19962124
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    107222330..107280590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)