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SIPA1L3 signal induced proliferation associated 1 like 3 [ Homo sapiens (human) ]

Gene ID: 23094, updated on 24-Nov-2020

Summary

Official Symbol
SIPA1L3provided by HGNC
Official Full Name
signal induced proliferation associated 1 like 3provided by HGNC
Primary source
HGNC:HGNC:23801
See related
Ensembl:ENSG00000105738 MIM:616655
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
SPAL3; SPAR3; CTRCT45
Summary
This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in small intestine (RPKM 6.9), duodenum (RPKM 6.5) and 24 other tissues See more
Orthologs

Genomic context

See SIPA1L3 in Genome Data Viewer
Location:
19q13.13-q13.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (37906822..38208369)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38397525..38699009)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372395 Neighboring gene uncharacterized LOC107985301 Neighboring gene WD repeat domain 87 Neighboring gene uncharacterized LOC105372396 Neighboring gene small nucleolar RNA, C/D box 152 Neighboring gene RNA, 7SL, cytoplasmic 663, pseudogene Neighboring gene double PHD fingers 1 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14A

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epithelial cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
establishment of epithelial cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of epithelial cell polarity IDA
Inferred from Direct Assay
more info
PubMed 
eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
apical part of cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 
tricellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
signal-induced proliferation-associated 1-like protein 3
Names
SIPA1-like protein 3
SPA-1-like protein 3
spine-associated RapGAP 3

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_046730.1 RefSeqGene

    Range
    4988..306149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015073.3NP_055888.1  signal-induced proliferation-associated 1-like protein 3

    See identical proteins and their annotated locations for NP_055888.1

    Status: REVIEWED

    Source sequence(s)
    AC011465, AC011479, AC016582, AI560928, BC150620, BM193478
    Consensus CDS
    CCDS33007.1
    UniProtKB/Swiss-Prot
    O60292
    UniProtKB/TrEMBL
    B2RWP0
    Related
    ENSP00000222345.4, ENST00000222345.11
    Conserved Domains (3) summary
    cd00992
    Location:9661036
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam02145
    Location:641821
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14771726
    SPAR_C; C-terminal domain of SPAR protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    37906822..38208369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026518.2XP_016882007.1  signal-induced proliferation-associated 1-like protein 3 isoform X2

    Conserved Domains (3) summary
    cd00992
    Location:9661036
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam02145
    Location:641821
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14771725
    SPAR_C; C-terminal domain of SPAR protein
  2. XM_011526657.2XP_011524959.1  signal-induced proliferation-associated 1-like protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011524959.1

    UniProtKB/Swiss-Prot
    O60292
    Conserved Domains (3) summary
    cd00992
    Location:9661036
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam02145
    Location:641821
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14771726
    SPAR_C; C-terminal domain of SPAR protein
  3. XM_005258671.4XP_005258728.1  signal-induced proliferation-associated 1-like protein 3 isoform X1

    See identical proteins and their annotated locations for XP_005258728.1

    UniProtKB/Swiss-Prot
    O60292
    Conserved Domains (3) summary
    cd00992
    Location:9661036
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam02145
    Location:641821
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14771726
    SPAR_C; C-terminal domain of SPAR protein

RNA

  1. XR_001753640.2 RNA Sequence

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