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ALX1 ALX homeobox 1 [ Homo sapiens (human) ]

Gene ID: 8092, updated on 11-Jun-2021

Summary

Official Symbol
ALX1provided by HGNC
Official Full Name
ALX homeobox 1provided by HGNC
Primary source
HGNC:HGNC:1494
See related
Ensembl:ENSG00000180318 MIM:601527
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
FND3; CART1; HEL23
Summary
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 1.7), ovary (RPKM 0.6) and 5 other tissues See more
Orthologs
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Genomic context

See ALX1 in Genome Data Viewer
Location:
12q21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (85280220..85301784)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85673998..85695562)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14945 Neighboring gene tetraspanin 19 Neighboring gene leucine rich repeats and IQ motif containing 1 Neighboring gene Sharpr-MPRA regulatory region 9199 Neighboring gene long intergenic non-protein coding RNA 2820 Neighboring gene uncharacterized LOC107984537

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ALX homeobox 1 (ALX1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ALX homeobox protein 1
Names
CART-1
cartilage paired-class homeoprotein 1
epididymis luminal protein 23

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.

Genomic

  1. NG_023202.1 RefSeqGene

    Range
    4963..26527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006982.3NP_008913.2  ALX homeobox protein 1

    See identical proteins and their annotated locations for NP_008913.2

    Status: REVIEWED

    Source sequence(s)
    AC133794, BC010923
    Consensus CDS
    CCDS9028.1
    UniProtKB/Swiss-Prot
    Q15699
    UniProtKB/TrEMBL
    V9HWA7
    Related
    ENSP00000315417.3, ENST00000316824.4
    Conserved Domains (2) summary
    pfam00046
    Location:135189
    Homeobox; Homeobox domain
    pfam03826
    Location:302320
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    85280220..85301784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538782.2XP_011537084.1  ALX homeobox protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011537084.1

    Conserved Domains (2) summary
    pfam00046
    Location:4093
    Homeobox; Homeobox domain
    pfam03826
    Location:207224
    OAR; OAR domain
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