TCEAL1

Protein identityUniProt · HPA

UniProt accession

Q15170

Gene

TCEAL1

Ensembl

ENSG00000172465

Chromosome

X

Canonical length

159 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

159 residues, UniProt reviewed canonical sequence.

>Q15170|TCEAL1
     1  MDKPRKENEE EPQSAPKTDE ERPPVEHSPE KQSPEEQSSE EQSSEEEFFP EELLPELLPE
    61  MLLSEERPPQ EGLSRKDLFE GRPPMEQPPC GVGKHKLEEG SFKERLARSR PQFRGDIHGR
   121  NLSNEEMIQA ADELEEMKRV RNKLMIMHWK AKRSRPYPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCEAL1 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)

0.64

Highest tissue expression

166 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCEAL1.

Disease | AllUniProt

Conditions TCEAL1 is implicated in, by any mechanism.

• Hijazi-Reis syndrome (HIJRS) MIM:301094

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 41 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
• See cases
• Inborn genetic diseases

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)

1.07

gnomAD pLI

0.59

gnomAD missense Z

1.05

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Transcription elongation factor A-like/Brain expressed X-linked
• Brain expressed X-linked like family

KeywordsUniProt

• Intellectual disability
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation