CDK5RAP2 CDK5 regulatory subunit associated protein 2 [Homo sapiens] - Gene

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Summary

Official Symbol: CDK5RAP2provided by HGNC
Official Full Name: CDK5 regulatory subunit associated protein 2provided by HGNC
Primary source: HGNC:18672
Locus tag: RP11-412P1.1
See related: Ensembl:ENSG00000136861; HPRD:09740; MIM:608201; Vega:OTTHUMG00000021043
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: C48; MCPH3; Cep215; KIAA1633; DKFZp686B1070; DKFZp686D1070
Summary: Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 9q33.2

Sequence :: Chromosome: 9; NC_000009.11 (123151147..123342437, complement)

See CDK5RAP2 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

We conclude that the common variations we measured in the 4 microcephaly genes, ASPM, MCPH1, CDK5RAP2, and CENPJ, do not affect the risk of Alzheimer disease
Title: Microcephaly genes and risk of late-onset Alzheimer disease.
The deletion of the C-terminal structural maintenance of chromosome (SMC) domain and the p35-binding domain in both patient pedigrees 1 and 2 CDK5RAP2 is sufficient for the development of MCPH3-associated primary microcephaly.
Title: Primary microcephaly 3 (MCPH3): revisiting two critical mutations.
A report of an novel alternatively spliced variant form of hCDK5RAP2, hCDK5RAP2 variant 1 (hCDK5RAP2-V1) which lacks the 237 nucleotide residues of hCDK5RAP2 exon 32.
Title: Novel alternatively spliced variant form of human CDK5RAP2.
CDK5RAP2 may represent a novel mechanism for centrosomal and Golgi localization.
Title: Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex.
CEP 215 regulates a dynein-dependent transport of the pericentriolar matrix proteins during the centrosome maturation.
Title: CEP215 is involved in the dynein-dependent accumulation of pericentriolar matrix proteins for spindle pole formation.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
Results show that CDK5RAP2 targets growing microtubule tips in association with EB1 to regulate microtubule dynamics.
Title: Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics.
CDK5RAP2 is required for spindle checkpoint function.
Title: CDK5RAP2 is required for spindle checkpoint function.
Centrosome malfunction due to the CDK5RAP2 mutations may underlie autosomal recessive primary microcephaly.
Title: CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association of lipid-lowering response to statins in combined study populations.

Microcephaly, primary autosomal recessive, 3

MIM: 604804

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Products	Interactant	Other Gene	Source	Pubs	Description
Q96SN8	Q9BZC7	ABCA2	HPRD	PubMed
Q96SN8	Q9UKR5	C14orf1	HPRD	PubMed
Q96SN8	Q15078	CDK5R1	HPRD	PubMed
Q96SN8	Q14194	CRMP1	HPRD	PubMed
Q96SN8	P26641	EEF1G	HPRD	PubMed
Q96SN8	P54257	HAP1	HPRD	PubMed
Q96SN8	Q92993	KAT5	HPRD	PubMed
Q96SN8	Q9Y383	LUC7L2	HPRD	PubMed
Q96SN8	Q9H213	MAGEH1	HPRD	PubMed
Q96SN8	P07196	NEFL	HPRD	PubMed
Q96SN8	P21246	PTN	HPRD	PubMed
Q96SN8	Hypothetical protein DKFZp564O0523	RBM48	HPRD	PubMed
Q96SN8	Q8NFH8	REPS2	HPRD	PubMed
Q96SN8	Q9HC62	SENP2	HPRD	PubMed
Q96SN8	Q9P2P6	STARD9	HPRD	PubMed
Q96SN8	Q9NRP7	STK36	HPRD	PubMed
Q96SN8	O60343	TBC1D4	HPRD	PubMed
Q96SN8	O75312	ZNF259	HPRD	PubMed
BioGRID:120873	BioGRID:106538	ABCA2	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:116332	C14orf1	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:107455	CDK5	BioGRID	PubMed	Reconstituted Complex
BioGRID:120873	BioGRID:114376	CDK5R1	BioGRID	PubMed	Reconstituted Complex
BioGRID:120873	BioGRID:159447	CDK5R1	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:107790	CRMP1	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:108257	EEF1G	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:114480	HAP1	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:115779	KAT5	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:119646	LUC7L2	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:118807	MAGEH1	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:111731	PTN	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:123855	RBM48	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:121885	SENP2	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:121580	STARD9	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:118032	STK36	BioGRID	PubMed	Two-hybrid
BioGRID:120873	BioGRID:207577	Spag5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120873	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:120873	BioGRID:114401	ZNF259	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
calmodulin binding	IPI Inferred from Physical Interaction more info
microtubule binding	IDA Inferred from Direct Assay more info	PubMed
neuronal Cdc2-like kinase binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
tubulin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
brain development	ISS Inferred from Sequence or Structural Similarity more info
brain development	NAS Non-traceable Author Statement more info	PubMed
centrosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
establishment of mitotic spindle orientation	ISS Inferred from Sequence or Structural Similarity more info
microtubule bundle formation	IDA Inferred from Direct Assay more info	PubMed
microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
mitotic cell cycle	TAS Traceable Author Statement more info
negative regulation of centriole replication	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
regulation of neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
regulation of spindle checkpoint	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info
cell junction	IDA Inferred from Direct Assay more info	PubMed
centrosome	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	NAS Non-traceable Author Statement more info	PubMed
cytosol	TAS Traceable Author Statement more info
microtubule	IDA Inferred from Direct Assay more info	PubMed
pericentriolar material	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: CDK5 regulatory subunit-associated protein 2

Names: CDK5 regulatory subunit-associated protein 2; centrosomal protein 215 kDa; centrosome-associated protein 215; CDK5 activator-binding protein C48

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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

NG_008999.1 RefSeqGene

Range

5001..196291

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001011649.1 → NP_001011649.1 CDK5 regulatory subunit-associated protein 2 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.

Source sequence(s)

AF448860, AK122913, BC019577

Consensus CDS

CCDS43871.1

UniProtKB/TrEMBL

B3KVI2

UniProtKB/TrEMBL

Q05CZ3

UniProtKB/Swiss-Prot

Q96SN8

Related

ENSP00000353317, OTTHUMP00000215329, ENST00000360190, OTTHUMT00000355367

Conserved Domains (4) summary

COG0419
Location:105 – 606
Blast Score: 117

SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]

TIGR02168
Location:1395 – 1576
Blast Score: 100

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl14654
Location:289 – 498
Blast Score: 101

V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains

pfam07989
Location:59 – 133
Blast Score: 201

Microtub_assoc; Microtubule associated
NM_018249.4 → NP_060719.4 CDK5 regulatory subunit-associated protein 2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).

Source sequence(s)

AF448860, AK122913, BC019577

Consensus CDS

CCDS6823.1

UniProtKB/TrEMBL

B3KVI2

UniProtKB/TrEMBL

Q05CZ3

UniProtKB/Swiss-Prot

Q96SN8

Related

ENSP00000343818, OTTHUMP00000022800, ENST00000349780, OTTHUMT00000055535

Conserved Domains (4) summary

COG0419
Location:105 – 606
Blast Score: 117

SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]

TIGR02168
Location:1395 – 1653
Blast Score: 119

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl14654
Location:289 – 498
Blast Score: 101

V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains

pfam07989
Location:59 – 133
Blast Score: 201

Microtub_assoc; Microtubule associated

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

123151147..123342437, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

92769151..92960473, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL138836.15	CAI16963.1
		CAI16964.1
genomic	AL138836.15	CAI16963.1
		CAI16964.1
genomic	AL353736.11	CAI40653.1
		CAI40654.1
		CAI40655.1
		CAI40656.1
		CAI40657.1
genomic	AL353736.11	CAI40653.1
		CAI40654.1
		CAI40655.1
		CAI40656.1
		CAI40657.1
genomic	AL391870.16	CAI40925.1
		CAI40926.1
		CAI40927.1
genomic	AL391870.16	CAI40925.1
		CAI40926.1
		CAI40927.1
genomic	AL590642.9	CAH70769.1
		CAH70770.1
genomic	AL590642.9	CAH70769.1
		CAH70770.1
genomic	CH471090.1	EAW87457.1
		EAW87458.1
		EAW87459.1
		EAW87460.1
		EAW87461.1
		EAW87462.1
		EAW87463.1
genomic	HI574114.1	CBX47546.1
genomic	HI574116.1	CBX47547.1
mRNA	AB046853.2	BAB13459.2
mRNA	AF087969.1	None
mRNA	AF448860.1	AAP41926.1
mRNA	AK001729.1	BAA91865.1
mRNA	AK025867.1	BAB15263.1
mRNA	AK027636.1	BAB55253.1
mRNA	AK122913.1	BAG53794.1
mRNA	AL133161.1	CAB61487.1
mRNA	AL833481.1	None
mRNA	BC004526.2	AAH04526.2
mRNA	BC019577.1	AAH19577.1
mRNA	BC136275.1	AAI36276.1
mRNA	BC143732.1	None
mRNA	BC143734.1	None
mRNA	BC143753.1	None
mRNA	BC143755.1	None
mRNA	BC143760.1	None
mRNA	BC143762.1	AAI43763.1
mRNA	BC143764.1	None
mRNA	BC146782.1	AAI46783.1
mRNA	BK005504.1	DAA05504.1
mRNA	BX537421.1	CAD97663.1
mRNA	BX537708.1	CAD97819.1
mRNA	BX537759.1	CAD97828.1
mRNA	BX640896.1	CAE45944.1
mRNA	CR936622.1	CAI56765.1
mRNA	CR936717.1	None

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q05CZ3	GenPept	UniProtKB/TrEMBL:Q05CZ3
Q5CZA0	GenPept	UniProtKB/TrEMBL:Q5CZA0
Q5JTU8	GenPept	UniProtKB/TrEMBL:Q5JTU8
Q5JTU9	GenPept	UniProtKB/TrEMBL:Q5JTU9
Q66GT8	GenPept	UniProtKB/TrEMBL:Q66GT8
Q6MZT4	GenPept	UniProtKB/TrEMBL:Q6MZT4
Q7Z3M0	GenPept	UniProtKB/TrEMBL:Q7Z3M0
Q96SN8.5	GenPept	UniProtKB/Swiss-Prot:Q96SN8