Tissue expression of IQCB1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	IQCB1
Gene description	IQ motif containing B1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	IQCB1 (HGNC Symbol)
Synonyms	KIAA0036, NPHP5, SLSN5
Description	IQ motif containing B1 (HGNC Symbol)
Entrez gene summary	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Chromosome	3
Cytoband	q13.33
Chromosome location (bp)	121769763 - 121835079
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000173226 (version 83.38)
Entrez gene	9657
UniProt	Q15051 (UniProt - Evidence at protein level)
neXtProt	NX_Q15051
Antibodypedia	IQCB1 antibodies

PROTEIN BROWSER

IQCB1-001	IQCB1-003	IQCB1-004	IQCB1-005	IQCB1-006

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
IQCB1-001 ENSP00000311505 ENST00000310864	Q15051 [Direct mapping] IQ calmodulin-binding motif-containing protein 1 Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001750 [photoreceptor outer segment] GO:0005488 [binding] GO:0005515 [protein binding] GO:0005516 [calmodulin binding] GO:0005654 [nucleoplasm] GO:0005813 [centrosome] GO:0005829 [cytosol] GO:0006996 [organelle organization] GO:0015630 [microtubule cytoskeleton] GO:0019899 [enzyme binding] GO:0032391 [photoreceptor connecting cilium] GO:0042384 [cilium assembly] GO:0045171 [intercellular bridge] GO:0045494 [photoreceptor cell maintenance] GO:0048496 [maintenance of organ identity] GO:0070062 [extracellular exosome] Show all	598 aa 68.9 kDa	No	0
IQCB1-003 ENSP00000323756 ENST00000349820	Q15051 [Direct mapping] IQ calmodulin-binding motif-containing protein 1 Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005516 [calmodulin binding] GO:0005654 [nucleoplasm] GO:0005813 [centrosome] GO:0005829 [cytosol] GO:0006996 [organelle organization] GO:0015630 [microtubule cytoskeleton] GO:0019899 [enzyme binding] GO:0032391 [photoreceptor connecting cilium] GO:0042384 [cilium assembly] GO:0045171 [intercellular bridge] GO:0045494 [photoreceptor cell maintenance] GO:0048496 [maintenance of organ identity] GO:0070062 [extracellular exosome] Show all	465 aa 53.7 kDa	No	0
IQCB1-004 ENSP00000419376 ENST00000462442	C9JVC4 [Direct mapping] IQ calmodulin-binding motif-containing protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005516 [calmodulin binding] GO:0042384 [cilium assembly] Show all	87 aa 9.8 kDa	No	0
IQCB1-005 ENSP00000419168 ENST00000460108	C9JXD7 [Direct mapping] IQ calmodulin-binding motif-containing protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005516 [calmodulin binding] GO:0042384 [cilium assembly] Show all	143 aa 16.4 kDa	No	0
IQCB1-006 ENSP00000417832 ENST00000498104	C9J6Z7 [Direct mapping] IQ calmodulin-binding motif-containing protein 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005516 [calmodulin binding] GO:0042384 [cilium assembly] Show all	84 aa 9.6 kDa	No	0