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KIAA1324 KIAA1324 [ Homo sapiens (human) ]

Gene ID: 57535, updated on 17-Jun-2019

Summary

Official Symbol
KIAA1324provided by HGNC
Official Full Name
KIAA1324provided by HGNC
Primary source
HGNC:HGNC:29618
See related
Ensembl:ENSG00000116299 MIM:611298
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
EIG121
Summary
Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Expression
Biased expression in stomach (RPKM 32.4), salivary gland (RPKM 26.9) and 13 other tissues See more
Orthologs

Genomic context

See KIAA1324 in Genome Data Viewer
Location:
1p13.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (109114106..109206781)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109656585..109749403)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene poly(rC) binding protein 1 pseudogene Neighboring gene chromosome 1 open reading frame 194 Neighboring gene seryl-tRNA synthetase Neighboring gene VISTA enhancer hs2216 Neighboring gene cadherin EGF LAG seven-pass G-type receptor 2

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC150624

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Process Evidence Code Pubs
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vacuole organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with lysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
colocalizes_with trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
UPF0577 protein KIAA1324
Names
estrogen-induced gene 121 protein
maba1

NCBI Reference Sequences (RefSeq)

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_032763.1 RefSeqGene

    Range
    5001..97819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001267048.2NP_001253977.2  UPF0577 protein KIAA1324 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and lacks two alternate in-frame exons in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AL138933, AL356389
    Consensus CDS
    CCDS58015.1
    Related
    ENSP00000434595.1, ENST00000529753.5
  2. NM_001284352.2NP_001271281.1  UPF0577 protein KIAA1324 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, and also uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK297221, AL138933, AL356389, BQ101251, CD108482, CD360008
    UniProtKB/TrEMBL
    B4DLZ2
    Conserved Domains (2) summary
    pfam07699
    Location:170209
    GCC2_GCC3; GCC2 and GCC3
    cl22855
    Location:271319
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  3. NM_001284353.1NP_001271282.1  UPF0577 protein KIAA1324 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter, and thus differs in the 5' UTR and 5' coding region. These differences cause translation initiation at an alternate start codon and result in an isoform (5) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK122934, AL356389, BQ101251
    Conserved Domains (2) summary
    pfam00878
    Location:473525
    CIMR; Cation-independent mannose-6-phosphate receptor repeat
    cl22855
    Location:3583
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  4. NM_020775.5NP_065826.3  UPF0577 protein KIAA1324 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AL138933, AL356389
    Consensus CDS
    CCDS794.1
    Related
    ENSP00000358955.3, ENST00000369939.8
    Conserved Domains (2) summary
    pfam07562
    Location:381417
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cl28643
    Location:275414
    VSP; Giardia variant-specific surface protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    109114106..109206781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541825.2XP_011540127.1  UPF0577 protein KIAA1324 isoform X1

    UniProtKB/Swiss-Prot
    Q6UXG2
    Conserved Domains (3) summary
    pfam00878
    Location:811863
    CIMR; Cation-independent mannose-6-phosphate receptor repeat
    pfam07699
    Location:272311
    GCC2_GCC3; GCC2 and GCC3
    cl22855
    Location:373421
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  2. XM_011541827.2XP_011540129.1  UPF0577 protein KIAA1324 isoform X3

    Conserved Domains (2) summary
    pfam00878
    Location:761813
    CIMR; Cation-independent mannose-6-phosphate receptor repeat
    cl22855
    Location:323371
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  3. XM_011541826.3XP_011540128.1  UPF0577 protein KIAA1324 isoform X2

    Related
    ENSP00000393964.2, ENST00000457623.6
    Conserved Domains (3) summary
    pfam00878
    Location:811863
    CIMR; Cation-independent mannose-6-phosphate receptor repeat
    pfam07699
    Location:272311
    GCC2_GCC3; GCC2 and GCC3
    cl22855
    Location:373421
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  4. XM_017001883.2XP_016857372.1  UPF0577 protein KIAA1324 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001267049.1: Suppressed sequence

    Description
    NM_001267049.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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