NHLH1

Protein identityUniProt · HPA

UniProt accession

Q02575

Gene

NHLH1

Ensembl

ENSG00000171786

Chromosome

1

Canonical length

133 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Golgi apparatus

OverviewNCBI Gene

The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]

Canonical amino-acid sequenceUniProt

133 residues, UniProt reviewed canonical sequence.

>Q02575|NHLH1
     1  MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP GEPGRKDLQH
    61  LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK LLPTLPPDKK LSKIEILRLA
   121  ICYISYLNHV LDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NHLH1 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)

0.58

Highest tissue expression

1.7 nTPM

Expression across tissuesHPA

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)

1.32

gnomAD pLI

0.26

gnomAD missense Z

1.04

DepMap mean gene effect

0.12

DepMap dependency class

none

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

Biological processes

• cell differentiation
• central nervous system development
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein dimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• Helix-loop-helix protein TAL-like
• Helix-loop-helix DNA-binding domain

KeywordsUniProt

• Developmental protein
• Differentiation
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of NHLH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HIVEP1