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FAM126A family with sequence similarity 126, member A [ Homo sapiens (human) ]

Gene ID: 84668, updated on 11-Sep-2014
Official Symbol
FAM126Aprovided by HGNC
Official Full Name
family with sequence similarity 126, member Aprovided by HGNC
Primary source
HGNC:HGNC:24587
See related
Ensembl:ENSG00000122591; HPRD:16837; MIM:610531; Vega:OTTHUMG00000128435
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
HCC; HLD5; HYCC1; DRCTNNB1A
Summary
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
See FAM126A in Epigenomics, MapViewer
Location:
7p15.3
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (22941259..23014195, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22980878..23053814, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927841 Neighboring gene small nucleolar RNA, C/D box 93 Neighboring gene ribosomal protein L12 pseudogene 10 Neighboring gene KLHL7 antisense RNA 1 (head to head) Neighboring gene kelch-like family member 7 Neighboring gene adenylate kinase 3 pseudogene 3

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hypomyelination and Congenital Cataract Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
NHGRI GWA Catalog

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signal transducer activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
hyccin
Names
hyccin
down regulated by Ctnnb1, a
down-regulated by CTNNB1 protein A

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_008392.1 

    Range
    5001..77893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032581.3NP_115970.2  hyccin

    See proteins identical to NP_115970.2

    Status: REVIEWED

    Source sequence(s)
    AA811006, AL833296, BC018710, DB099987
    Consensus CDS
    CCDS5377.1
    UniProtKB/TrEMBL
    A0A024RA06
    UniProtKB/Swiss-Prot
    Q9BYI3
    Related
    ENSP00000403396, OTTHUMP00000158548, ENST00000432176, OTTHUMT00000250230
    Conserved Domains (1) summary
    pfam09790
    Location:20330
    Hyccin; Hyccin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    22941259..23014195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715799.1XP_006715862.1  

    Conserved Domains (1) summary
    pfam09790
    Location:2155
    Hyccin; Hyccin
  2. XM_005249894.2XP_005249951.1  

    See proteins identical to XP_005249951.1

    UniProtKB/TrEMBL
    B8ZZJ1
    Related
    ENSP00000397168, OTTHUMP00000202016, ENST00000440481, OTTHUMT00000326862
    Conserved Domains (1) summary
    pfam09790
    Location:20330
    Hyccin; Hyccin
  3. XM_005249895.1XP_005249952.1  

    Conserved Domains (1) summary
    pfam09790
    Location:20330
    Hyccin; Hyccin
  4. XM_006715800.1XP_006715863.1  

    Conserved Domains (1) summary
    pfam09790
    Location:20248
    Hyccin; Hyccin

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    22864258..22937122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    22981792..23054656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)