KIFAP3 kinesin associated protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIFAP3provided by HGNC
Official Full Name: kinesin associated protein 3provided by HGNC
Primary source: HGNC:HGNC:17060
See related: Ensembl:ENSG00000075945 MIM:601836; AllianceGenome:HGNC:17060
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: FLA3; KAP3; SMAP; KAP-1; KAP-3; Smg-GDS; dJ190I16.1
Summary: The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Expression: Broad expression in brain (RPKM 27.3), testis (RPKM 15.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169921329..170085184, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (169277046..169441099, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169890470..170043836, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of renal tubular cell through PRRX1 in diabetic nephropathy.
Title: LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of renal tubular cell through PRRX1 in diabetic nephropathy.
Novel regulatory roles of small G protein GDP dissociation stimulator (smgGDS) in insulin secretion from pancreatic beta-cells.
Title: Novel regulatory roles of small G protein GDP dissociation stimulator (smgGDS) in insulin secretion from pancreatic β-cells.
Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach.
Title: Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach.
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
Title: Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer.
Title: Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer.
This study does not show an influence of KIFAP3 variants on survival in the studied Swiss and Swedish cohort
Title: Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.
These data suggest that GLI interactions with KIF3A-KIF3B-KAP3 complexes are essential for proper GLI transcriptional activity.
Title: The heterotrimeric kinesin-2 complex interacts with and regulates GLI protein function.
Common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients.
Title: Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
The incidence of the motor neuron-predominant amyotrophic lateral sclerosis phenotype in the patients of this cohort supports the hypothesis that the SNP within the KIFAP3 gene is a potential modifier of the amyotrophic lateral sclerosis phenotype
Title: Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis.
Data clearly show that SNP rs1541160 does not modify survival within cohort of 504 Italian ALS cases.
Title: Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	Using acetylated HIV-1 IN as bait in yeast two-hybrid screening identifies transcription regulatory and chromatin remodeling factors LEDGF/p75, KAP1, BTF3b, THRAP3, and HMGN2 as IN-binding partners	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2192 (e-PCR)
- UniSTS:71566

D1S2521 (e-PCR)
- UniSTS:47774

A002K17 (e-PCR)
- UniSTS:62658

SHGC-84509 (e-PCR)
- UniSTS:102853

AL009672 (e-PCR)
- UniSTS:78077

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables intraciliary transport particle B binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde dendritic transport of neurotransmitter receptor complex	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cilium organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of thymocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in plus-end-directed vesicle transport along microtubule	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of calcium-dependent cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in thymocyte apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in ciliary tip	TAS Traceable Author Statement more info
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	TAS Traceable Author Statement more info
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of kinesin II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of kinesin II complex	IDA Inferred from Direct Assay more info	PubMed
part_of kinesin II complex	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in periciliary membrane compartment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
colocalizes_with spindle microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: kinesin-associated protein 3

Names: small G protein GDP dissociation stimulator; smg GDS-associated protein

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

NG_012883.4 RefSeqGene

Range

15489..168855

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001204514.2 → NP_001191443.1 kinesin-associated protein 3 isoform 2

See identical proteins and their annotated locations for NP_001191443.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is longer at the N-terminus compared to isoform 1.

Source sequence(s)

AI085654, AK303052, BC028679

Consensus CDS

CCDS55659.1

UniProtKB/Swiss-Prot

Q92845

Related

ENSP00000444622.1, ENST00000538366.5

Conserved Domains (1) summary

pfam05804
Location:39 → 642

KAP; Kinesin-associated protein (KAP)
NM_001204516.2 → NP_001191445.1 kinesin-associated protein 3 isoform 3

See identical proteins and their annotated locations for NP_001191445.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI085654, AK297368, BC028679, DA144269

Consensus CDS

CCDS55661.1

UniProtKB/Swiss-Prot

Q92845

Related

ENSP00000356741.1, ENST00000367767.5

Conserved Domains (1) summary

pfam05804
Location:1 → 676

KAP; Kinesin-associated protein (KAP)
NM_001204517.2 → NP_001191446.1 kinesin-associated protein 3 isoform 4

See identical proteins and their annotated locations for NP_001191446.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AI085654, AK122897, AL356475, BC028679

Consensus CDS

CCDS55660.1

UniProtKB/Swiss-Prot

Q92845

Related

ENSP00000356739.1, ENST00000367765.5

Conserved Domains (1) summary

pfam05804
Location:1 → 680

KAP; Kinesin-associated protein (KAP)
NM_001375830.1 → NP_001362759.1 kinesin-associated protein 3 isoform 5

Status: REVIEWED

Source sequence(s)

AL121714, AL356475

Conserved Domains (1) summary

pfam05804
Location:13 → 720

KAP; Kinesin-associated protein (KAP)
NM_001375831.1 → NP_001362760.1 kinesin-associated protein 3 isoform 6

Status: REVIEWED

Source sequence(s)

AL121714, AL356475

Conserved Domains (1) summary

pfam05804
Location:13 → 720

KAP; Kinesin-associated protein (KAP)
NM_014970.4 → NP_055785.2 kinesin-associated protein 3 isoform 1

See identical proteins and their annotated locations for NP_055785.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI085654, AK315586, BC028679, DA144269

Consensus CDS

CCDS1288.1

UniProtKB/Swiss-Prot

B1AKU4, B1AKU5, B2RDL1, B7Z8A3, F5H591, Q8NHU7, Q92845, Q9H416

Related

ENSP00000354560.2, ENST00000361580.7

Conserved Domains (1) summary

pfam05804
Location:13 → 720

KAP; Kinesin-associated protein (KAP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

169921329..170085184 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024454186.2 → XP_024309954.1 kinesin-associated protein 3 isoform X1

UniProtKB/TrEMBL

A0AAQ5BGI3

Related

ENSP00000518914.1, ENST00000490550.2

Conserved Domains (1) summary

pfam05804
Location:28 → 735

KAP; Kinesin-associated protein (KAP)
XM_047449531.1 → XP_047305487.1 kinesin-associated protein 3 isoform X2
XM_047449532.1 → XP_047305488.1 kinesin-associated protein 3 isoform X3
XM_047449537.1 → XP_047305493.1 kinesin-associated protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

169277046..169441099 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335212.1 → XP_054191187.1 kinesin-associated protein 3 isoform X1

UniProtKB/TrEMBL

A0AAQ5BGI3
XM_054335213.1 → XP_054191188.1 kinesin-associated protein 3 isoform X2
XM_054335214.1 → XP_054191189.1 kinesin-associated protein 3 isoform X4