PABPC1L

Protein identityUniProt · HPA

UniProt accession

Q4VXU2

Gene

PABPC1L

Ensembl

ENSG00000101104

Chromosome

20

Canonical length

619 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019]

Canonical amino-acid sequenceUniProt

619 residues, UniProt reviewed canonical sequence.

>Q4VXU2|PABPC1L
     1  MNASGSGYPL ASLYVGDLHP DVTEAMLYEK FSPAGPILSI RVCRDVATRR SLGYAYINFQ
    61  QPADAERALD TMNFEMLKGQ PIRIMWSQRD PGLRKSGVGN IFIKNLEDSI DNKALYDTFS
   121  TFGNILSCKV ACDEHGSRGF GFVHFETHEA AQQAINTMNG MLLNDRKVFV GHFKSRRERE
   181  AELGARALEF TNIYVKNLPV DVDEQGLQDL FSQFGKMLSV KVMRDNSGHS RCFGFVNFEK
   241  HEEAQKAVVH MNGKEVSGRL LYAGRAQKRV ERQNELKRRF EQMKQDRLRR YQGVNLYVKN
   301  LDDSIDDDKL RKEFSPYGVI TSAKVMTEGG HSKGFGFVCF SSPEEATKAV TEMNGRIVGT
   361  KPLYVALAQR KEERKAILTN QYMQRLSTMR TLSNPLLGSF QQPSSYFLPA MPQPPAQAAY
   421  YGCGPVTPTQ PAPRWTSQPP RPSSAYPPGA SMVRPPVVPR RPPAHISSVR QASTQVPRTV
   481  PHTQRVANIG TQTTGPSGVG CCTPGRPLLP CKCSSAAHST YRVQEPAVHI PGQEPLTASM
   541  LAAAPLHEQK QMIGERLYPL IHDVHTQLAG KITGMLLEID NSELLLMLES PESLHAKIDE
   601  AVAVLQAHQA MEQPKAYMH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PABPC1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

12 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PABPC1L.

Disease | AllUniProt

Conditions PABPC1L is implicated in, by any mechanism.

• Oocyte/zygote/embryo maturation arrest 22 (OZEMA22) MIM:621093

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oocyte/zygote/embryo maturation arrest 22
• Inherited oocyte maturation defect
• Female infertility due to zona pellucida defect

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.62

gnomAD pLI

0

gnomAD missense Z

1.37

DepMap mean gene effect

0.11

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• oocyte maturation
• positive regulation of translation

Molecular functions

• mRNA 3'-UTR binding
• poly(A) binding
• poly(U) RNA binding

Cellular components

• cytoplasmic stress granule
• cytosol
• extracellular exosome
• nucleus
• ribonucleoprotein complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Polyadenylate-binding protein/Hyperplastic disc protein, C-terminal
• RNA recognition motif domain, eukaryotic-type
• Polyadenylate binding protein, human types 1, 2, 3, 4
• Nucleotide-binding alpha-beta plait domain superfamily
• PABP, RNA recognition motif 1
• RNA-binding domain superfamily
• PABC (PABP) domain
• PABP, RNA recognition motif 2
• RNA recognition motif
• MLLE domain

KeywordsUniProt

• Cytoplasm
• Differentiation
• Oogenesis
• Repeat
• RNA-binding