country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

POC1A - POC1 centriolar protein A Gene

Also Known as PIX2; SOFT; WDR51A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25886

About POC1A

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:52,075,226-52,154,423 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues, 26 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 5.0), bone marrow (RPKM 2.2) and 21 other tissues.

Summary

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

POC1A Products (3)

mRNA	Protein	Name
NM_001161580.2	NP_001155052.1	POC1 centriolar protein homolog A isoform 2
NM_001161581.2	NP_001155053.1	POC1 centriolar protein homolog A isoform 3
NM_015426.5	NP_056241.3	POC1 centriolar protein homolog A isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23015594	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	20008567	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	20008567	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	23015594	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POC1A Protein Structure

WD40

0
100
200
300
407 a.a.

Protein Preferred Names	Protein Names
POC1 centriolar protein homolog A	WD repeat domain 51A

POC1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POC1A	Q8NBT0	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
Intra	POC1A	Q8NBT0	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
Intra	POC1A	Q8NBT0	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
Intra	POC1A	Q8NBT0	NUDC	Homo sapiens	Q9Y266	Anti Tag CoIP	33961781
Intra	POC1A	Q8NBT0	NUDC	Homo sapiens	Q9Y266	BioID	26638075
Intra	POC1A	Q8NBT0	PECAM1	Homo sapiens	P16284	Y2H Array	32814053
Intra	POC1A	Q8NBT0	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
Intra	POC1A	Q8NBT0	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
Intra	POC1A	Q8NBT0	CDH1	Homo sapiens	P12830	Validated Y2H	32814053
Intra	POC1A	Q8NBT0	CDH1	Homo sapiens	P12830	Y2H Array	32814053
Intra	POC1A	Q8NBT0	CDH1	Homo sapiens	P12830	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Soft Syndrome Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome SOFT Stature, Short, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis Syndrome
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Hypotrichosis
Cataract 8, Multiple Types	Ccv Cataract, Congenital, Volkmann Type CTRCT8 Cataract 8 Multiple Types Cataract Congenital Volkmann Type Cutaneous Collagenous Vasculopathy
Brachydactyly
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Three M Syndrome 1	3-M Syndrome Yakut Short Stature Syndrome 3m Syndrome Le Merrer Syndrome Dolichospondylic Dysplasia Gloomy Face Syndrome Three M Syndrome 3M1 3m Syndrome 1 Miller-Mckusick-Malvaux Syndrome 3-Msbn Three-M Slender-Boned Nanism Miller-Mckusick-Malvaux-Syndrome 3-M Syndrome 1 3m Syndrome-1 3m Syndrome, Type 1 Dwarfism Dwarfism Tall Vertebrae
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10804	POC1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	POC1A	VGNC	VGNC:76102
Rattus norvegicus	POC1A	RGD	RGD:1565004
Canis familiaris	POC1A	VGNC	VGNC:54982
Bos taurus	POC1A	VGNC	VGNC:50094
Felis catus	POC1A	VGNC	VGNC:64271
Mus musculus	POC1A	MGD	MGI:1917485
Others	POC1A	NCBI