We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Fields »
 

Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
ABOUT
HELP
BLOG
  • THE HUMAN PROTEOME
  • THE HUMAN TISSUES
  • THE HUMAN CELL
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
    • NEWS
    • BLOG
    • EVENTS
    • PRESS ROOM
    • LEARN
    • DICTIONARY
    • METHODS
    • CELL LINES
  • THE PROJECT
  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • PUBLICATION DATA
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • LINKS
  • CONTACT
  • TECHNICAL DATA
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • DOWNLOADABLE DATA
  • HELP & FAQ
  • LICENCE & CITATION
  • PRIVACY STATEMENT
  • RELEASE HISTORY
PAFAH1B1
  • TISSUE

  • premium

    CELL

  • CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

PAFAH1B1

Gene description

Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
SHOW MORE

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

Protein expression

Cytoplasmic expression in most tissues. High expression in cells of seminiferous duct.

DATA RELIABILITY

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

Approved based on 2 antibodies.
HPA020036 , CAB004489
SHOW MORE

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
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

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

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

PAFAH1B1 (HGNC Symbol)

Synonyms

LIS1, MDCR, MDS, PAFAH

Description

Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (HGNC Symbol)

Entrez gene summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

Chromosome

17

Cytoband

p13.3

Chromosome location (bp)

2593210 - 2685615

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000007168 (version 83.38)

Entrez gene

5048

UniProt

P43034 (UniProt - Evidence at protein level)

neXtProt

NX_P43034

Antibodypedia

PAFAH1B1 antibodies

PROTEIN BROWSER

PAFAH1B1-001
PAFAH1B1-004
PAFAH1B1-011

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAFAH1B1-001
ENSP00000380378
ENST00000397195
P43034 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit alpha
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000086 [G2/M transition of mitotic cell cycle]
GO:0000132 [establishment of mitotic spindle orientation]
GO:0000226 [microtubule cytoskeleton organization]
GO:0000235 [astral microtubule]
GO:0000278 [mitotic cell cycle]
GO:0000776 [kinetochore]
GO:0001667 [ameboidal-type cell migration]
GO:0001675 [acrosome assembly]
GO:0001764 [neuron migration]
GO:0001961 [positive regulation of cytokine-mediated signaling pathway]
GO:0005515 [protein binding]
GO:0005635 [nuclear envelope]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005871 [kinesin complex]
GO:0005875 [microtubule associated complex]
GO:0005938 [cell cortex]
GO:0006996 [organelle organization]
GO:0007017 [microtubule-based process]
GO:0007067 [mitotic nuclear division]
GO:0007097 [nuclear migration]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007268 [synaptic transmission]
GO:0007281 [germ cell development]
GO:0007405 [neuroblast proliferation]
GO:0007420 [brain development]
GO:0007611 [learning or memory]
GO:0008017 [microtubule binding]
GO:0008090 [retrograde axon cargo transport]
GO:0008201 [heparin binding]
GO:0008344 [adult locomotory behavior]
GO:0009306 [protein secretion]
GO:0010977 [negative regulation of neuron projection development]
GO:0015630 [microtubule cytoskeleton]
GO:0016042 [lipid catabolic process]
GO:0016477 [cell migration]
GO:0017145 [stem cell division]
GO:0019226 [transmission of nerve impulse]
GO:0021540 [corpus callosum morphogenesis]
GO:0021766 [hippocampus development]
GO:0021819 [layer formation in cerebral cortex]
GO:0021895 [cerebral cortex neuron differentiation]
GO:0021987 [cerebral cortex development]
GO:0030036 [actin cytoskeleton organization]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0031023 [microtubule organizing center organization]
GO:0031252 [cell leading edge]
GO:0031512 [motile primary cilium]
GO:0031965 [nuclear membrane]
GO:0031982 [vesicle]
GO:0032403 [protein complex binding]
GO:0034452 [dynactin binding]
GO:0036035 [osteoclast development]
GO:0040019 [positive regulation of embryonic development]
GO:0042249 [establishment of planar polarity of embryonic epithelium]
GO:0042803 [protein homodimerization activity]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043087 [regulation of GTPase activity]
GO:0043274 [phospholipase binding]
GO:0043622 [cortical microtubule organization]
GO:0045502 [dynein binding]
GO:0045505 [dynein intermediate chain binding]
GO:0045773 [positive regulation of axon extension]
GO:0045931 [positive regulation of mitotic cell cycle]
GO:0046329 [negative regulation of JNK cascade]
GO:0046469 [platelet activating factor metabolic process]
GO:0047496 [vesicle transport along microtubule]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048854 [brain morphogenesis]
GO:0050885 [neuromuscular process controlling balance]
GO:0051081 [nuclear envelope disassembly]
GO:0051130 [positive regulation of cellular component organization]
GO:0051219 [phosphoprotein binding]
GO:0051660 [establishment of centrosome localization]
GO:0060117 [auditory receptor cell development]
GO:0061003 [positive regulation of dendritic spine morphogenesis]
GO:0070062 [extracellular exosome]
GO:0070507 [regulation of microtubule cytoskeleton organization]
GO:0090102 [cochlea development]
GO:0090176 [microtubule cytoskeleton organization involved in establishment of planar polarity]
GO:2000574 [regulation of microtubule motor activity]
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-004
ENSP00000460591
ENST00000574468
I3L3N5 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit alpha
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
208 aa
23.7 kDa
No 0
PAFAH1B1-011
ENSP00000461087
ENST00000576586
I3L495 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit alpha
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
82 aa
9.6 kDa
No 0

Contact

  • BLOG
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • DOWNLOADABLE DATA

The Human Protein Atlas

  • ANTIBODY AVAILABILITY
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.