Tissue expression of HEPH - Summary - The Human Protein Atlas

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HEPH

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	HEPH
Gene description	Hephaestin
Protein class	Predicted membrane proteins Predicted secreted proteins
Predicted localization	Membrane,Secreted
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Tissue enhanced (small intestine)
FANTOM5:	Tissue enhanced (small intestine)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in most tissues. Additional membranous expression in intestinal tract.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA005824
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (small intestine)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (small intestine)

GENE INFORMATION
Gene name	HEPH (HGNC Symbol)
Synonyms	CPL, KIAA0698
Description	Hephaestin (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Chromosome	X
Cytoband	q12
Chromosome location (bp)	66162549 - 66268867
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000089472 (version 83.38)
Entrez gene	9843
UniProt	Q9BQS7 (UniProt - Evidence at transcript level)
neXtProt	NX_Q9BQS7
Antibodypedia	HEPH antibodies

PROTEIN BROWSER

HEPH-001	HEPH-002	HEPH-003	HEPH-004	HEPH-005	HEPH-007	HEPH-008

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HEPH-001 ENSP00000430620 ENST00000519389	Q9BQS7 [Direct mapping] Hephaestin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004322 [ferroxidase activity] GO:0005507 [copper ion binding] GO:0005622 [intracellular] GO:0005886 [plasma membrane] GO:0006825 [copper ion transport] GO:0006826 [iron ion transport] GO:0006879 [cellular iron ion homeostasis] GO:0008198 [ferrous iron binding] GO:0016021 [integral component of membrane] GO:0016323 [basolateral plasma membrane] GO:0016491 [oxidoreductase activity] GO:0048471 [perinuclear region of cytoplasm] GO:0055085 [transmembrane transport] GO:0055114 [oxidation-reduction process] Show all	1212 aa 136.7 kDa	No	2
HEPH-002 ENSP00000343939 ENST00000343002	Q9BQS7 [Direct mapping] Hephaestin Q1HE23 [Target identity:100%; Query identity:100%] Hephaestin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0004322 [ferroxidase activity] GO:0005507 [copper ion binding] GO:0005622 [intracellular] GO:0005886 [plasma membrane] GO:0006825 [copper ion transport] GO:0006826 [iron ion transport] GO:0006879 [cellular iron ion homeostasis] GO:0008198 [ferrous iron binding] GO:0016021 [integral component of membrane] GO:0016323 [basolateral plasma membrane] GO:0016491 [oxidoreductase activity] GO:0055085 [transmembrane transport] GO:0055114 [oxidation-reduction process] Show all	1158 aa 130.4 kDa	Yes	1
HEPH-003 ENSP00000337418 ENST00000336279	Q9BQS7 [Direct mapping] Hephaestin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004322 [ferroxidase activity] GO:0005507 [copper ion binding] GO:0005622 [intracellular] GO:0005886 [plasma membrane] GO:0006825 [copper ion transport] GO:0006826 [iron ion transport] GO:0006879 [cellular iron ion homeostasis] GO:0008198 [ferrous iron binding] GO:0016021 [integral component of membrane] GO:0016323 [basolateral plasma membrane] GO:0016491 [oxidoreductase activity] GO:0055085 [transmembrane transport] GO:0055114 [oxidation-reduction process] Show all	891 aa 100.6 kDa	No	1
HEPH-004 ENSP00000398078 ENST00000425114	Q5JZ08 [Direct mapping] Hephaestin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005507 [copper ion binding] Show all	811 aa 91.4 kDa	Yes	0
HEPH-005 ENSP00000396907 ENST00000458621	Q5JZ07 [Direct mapping] Hephaestin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005507 [copper ion binding] Show all	208 aa 23.1 kDa	Yes	0
HEPH-007 ENSP00000413211 ENST00000419594	E7ES21 [Direct mapping] Hephaestin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005507 [copper ion binding] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	969 aa 109.8 kDa	Yes	1
HEPH-008 ENSP00000411687 ENST00000441993	A0A0C4DG76 [Direct mapping] Hephaestin; Hephaestin, isoform CRA_c Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005507 [copper ion binding] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	1160 aa 130.8 kDa	Yes	1

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