Seroatlas · Human Serome Atlas

TBC1D32

Protein broad-minded

Also known as: bA57L9.1, BROMI, BROMI_HUMAN, C6orf170, C6orf171, dJ310J6.1, FLJ30899, FLJ34235

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96NH3
Gene: TBC1D32
Ensembl: ENSG00000146350
Chromosome: 6
Canonical length: 1257 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

1257 residues, UniProt reviewed canonical sequence.

>Q96NH3|TBC1D32
     1  MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR
    61  QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA
   121  VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ
   181  LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT
   241  FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK
   301  EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM
   361  HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL
   421  GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP
   481  KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN
   541  CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF
   601  SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS
   661  DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV
   721  SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD
   781  PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA
   841  KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW
   901  PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP
   961  DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG
  1021  KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD
  1081  KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP
  1141  LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL
  1201  QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBC1D32 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): 0.28
Highest tissue expression: 6.9 nTPM

Expression across tissuesHPA

Tissue

retina: 6.9 nTPM
testis: 3.4 nTPM
cerebral cortex: 2.9 nTPM
placenta: 2.7 nTPM
adrenal gland: 2.3 nTPM
thyroid gland: 2.3 nTPM

Single-cell type

rod photoreceptor cells: 615 nCPM
somatotrophs: 390 nCPM
lactotrophs: 356 nCPM
gonadotrophs: 321 nCPM
thyrotrophs: 314 nCPM
adrenal cortex cells: 238 nCPM

Immune cell

plasmacytoid DC: 8.2 nTPM
basophil: 6.1 nTPM
naive B-cell: 4.5 nTPM
memory B-cell: 2.6 nTPM
naive CD4 T-cell: 2.6 nTPM
NK-cell: 2.6 nTPM

Brain region

white matter: 12 nTPM
hypothalamus: 11 nTPM
basal ganglia: 10 nTPM
midbrain: 9.9 nTPM
pons: 9.7 nTPM
cerebral cortex: 9.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBC1D32.

Disease | AllUniProt

Conditions TBC1D32 is implicated in, by any mechanism.

Orofaciodigital syndrome 9 (OFD9) MIM:258865
Retinitis pigmentosa 100 (RP100) MIM:621280
Alsahan-Harris syndrome (ALHAS) MIM:621307

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 359 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Orofaciodigital syndrome IX
Retinitis pigmentosa 100
Alsahan-Harris syndrome
Hypopituitarism
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): 0.9
gnomAD pLI: 0
gnomAD missense Z: 0.04
DepMap mean gene effect: 0.02
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Rab-GAP-TBC domain superfamily
PHAF1/Protein broad-minded
BROMI, middle region
BROMI, N-terminal domain
BROMI, C-terminal Rab TBC-like domain
Broad-minded protein central region
Broad-minded protein N-terminal domain
Broad-minded protein Rab TBC domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TBC1D32 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TBC1D32 as an antibody target. Whether an autoantibody or antibody against TBC1D32 could matter depends on whether native TBC1D32 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBC1D32 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TBC1D32 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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