Cell atlas - NBPF12 - The Human Protein Atlas

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NBPF12

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Vesicles

Human cell
	Vesicles

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GENERAL INFORMATION
Gene name	NBPF12
Gene description	Neuroblastoma breakpoint family, member 12
Protein class	Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to vesicles. Caution: Based on antibodies targeting proteins from multiple genes.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Vesicles (approved)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA043105
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to vesicles. Caution: Based on antibodies targeting proteins from multiple genes.

Main location

Vesicles (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA043105	A-431	Vesicles
	HPA043105	U-2 OS	Vesicles	Intensity
	HPA043105	U-251 MG	Vesicles

GENE INFORMATION
Gene name	NBPF12 (HGNC Symbol)
Synonyms	COAS1, KIAA1245
Description	Neuroblastoma breakpoint family, member 12 (HGNC Symbol)
Entrez gene summary	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]
Chromosome	1
Cytoband	q21.1
Chromosome location (bp)	146938744 - 146996202
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000268043 (version 83.38)
Entrez gene	149013
UniProt
neXtProt
Antibodypedia	NBPF12 antibodies

PROTEIN BROWSER

NBPF12-001	NBPF12-201	NBPF12-202	NBPF12-203	NBPF12-204	NBPF12-205	NBPF12-206	NBPF12-207

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NBPF12-001 ENSP00000478609 ENST00000617931	A0A087WUF1 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Show all		1457 aa 167.7 kDa	No	0
NBPF12-201 ENSP00000391949 ENST00000439206	H7BZX4 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	Predicted intracellular proteins Show all		577 aa 66.8 kDa	No	0
NBPF12-202 ENSP00000464426 ENST00000579935	A0A075B764 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	Predicted intracellular proteins Show all		1111 aa 128 kDa	No	0
NBPF12-203 ENSP00000481469 ENST00000611443	A0A087WY24 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	Predicted intracellular proteins Show all		1213 aa 139.5 kDa	No	0
NBPF12-204 ENSP00000480046 ENST00000613714	A0A087WW93 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	Predicted intracellular proteins Show all		867 aa 99.8 kDa	No	0
NBPF12-205 ENSP00000478967 ENST00000617614	A0A087WUW2 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	Predicted intracellular proteins Show all		865 aa 99.5 kDa	No	0
NBPF12-206 ENSP00000484391 ENST00000617844	A0A087WUF1 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Show all		1457 aa 167.7 kDa	No	0
NBPF12-207 ENSP00000483451 ENST00000617864	A0A087X0J8 [Direct mapping] Neuroblastoma breakpoint family member 12 Show all	Predicted intracellular proteins Show all		299 aa 34 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.