Seroatlas · Human Serome Atlas

SBF1

Myotubularin-related protein 5

Also known as: DENND7A, MTMR5, MTMR5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O95248
Gene
SBF1
Ensembl
ENSG00000100241
Chromosome
22
Canonical length
1868 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear bodies

OverviewNCBI Gene

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

Canonical amino-acid sequenceUniProt

1868 residues, UniProt reviewed canonical sequence.

>O95248|SBF1
     1  MARLADYFVL VAFGPHPRGS GEGQGQILQR FPEKDWEDNP FPQGIELFCQ PSGWQLCPER
    61  NPPTFFVAVL TDINSERHYC ACLTFWEPAE PSQQETTRVE DATEREEEGD EGGQTHLSPT
   121  APAPSAQLFA PKTLVLVSRL DHTEVFRNSL GLIYAIHVEG LNVCLENVIG NLLTCTVPLA
   181  GGSQRTISLG AGDRQVIQTP LADSLPVSRC SVALLFRQLG ITNVLSLFCA ALTEHKVLFL
   241  SRSYQRLADA CRGLLALLFP LRYSFTYVPI LPAQLLEVLS TPTPFIIGVN AAFQAETQEL
   301  LDVIVADLDG GTVTIPECVH IPPLPEPLQS QTHSVLSMVL DPELELADLA FPPPTTSTSS
   361  LKMQDKELRA VFLRLFAQLL QGYRWCLHVV RIHPEPVIRF HKAAFLGQRG LVEDDFLMKV
   421  LEGMAFAGFV SERGVPYRPT DLFDELVAHE VARMRADENH PQRVLRHVQE LAEQLYKNEN
   481  PYPAVAMHKV QRPGESSHLR RVPRPFPRLD EGTVQWIVDQ AAAKMQGAPP AVKAERRTTV
   541  PSGPPMTAIL ERCSGLHVNS ARRLEVVRNC ISYVFEGKML EAKKLLPAVL RALKGRAARR
   601  CLAQELHLHV QQNRAVLDHQ QFDFVVRMMN CCLQDCTSLD EHGIAAALLP LVTAFCRKLS
   661  PGVTQFAYSC VQEHVVWSTP QFWEAMFYGD VQTHIRALYL EPTEDLAPAQ EVGEAPSQED
   721  ERSALDVASE QRRLWPTLSR EKQQELVQKE ESTVFSQAIH YANRMSYLLL PLDSSKSRLL
   781  RERAGLGDLE SASNSLVTNS MAGSVAESYD TESGFEDAET CDVAGAVVRF INRFVDKVCT
   841  ESGVTSDHLK GLHVMVPDIV QMHIETLEAV QRESRRLPPI QKPKLLRPRL LPGEECVLDG
   901  LRVYLLPDGR EEGAGGSAGG PALLPAEGAV FLTTYRVIFT GMPTDPLVGE QVVVRSFPVA
   961  ALTKEKRISV QTPVDQLLQD GLQLRSCTFQ LLKMAFDEEV GSDSAELFRK QLHKLRYPPD
  1021  IRATFAFTLG SAHTPGRPPR VTKDKGPSLR TLSRNLVKNA KKTIGRQHVT RKKYNPPSWE
  1081  HRGQPPPEDQ EDEISVSEEL EPSTLTPSSA LKPSDRMTMS SLVERACCRD YQRLGLGTLS
  1141  SSLSRAKSEP FRISPVNRMY AICRSYPGLL IVPQSVQDNA LQRVSRCYRQ NRFPVVCWRS
  1201  GRSKAVLLRS GGLHGKGVVG LFKAQNAPSP GQSQADSSSL EQEKYLQAVV SSMPRYADAS
  1261  GRNTLSGFSS AHMGSHGKWG SVRTSGRSSG LGTDVGSRLA GRDALAPPQA NGGPPDPGFL
  1321  RPQRAALYIL GDKAQLKGVR SDPLQQWELV PIEVFEARQV KASFKKLLKA CVPGCPAAEP
  1381  SPASFLRSLE DSEWLIQIHK LLQVSVLVVE LLDSGSSVLV GLEDGWDITT QVVSLVQLLS
  1441  DPFYRTLEGF RLLVEKEWLS FGHRFSHRGA HTLAGQSSGF TPVFLQFLDC VHQVHLQFPM
  1501  EFEFSQFYLK FLGYHHVSRR FRTFLLDSDY ERIELGLLYE EKGERRGQVP CRSVWEYVDR
  1561  LSKRTPVFHN YMYAPEDAEV LRPYSNVSNL KVWDFYTEET LAEGPPYDWE LAQGPPEPPE
  1621  EERSDGGAPQ SRRRVVWPCY DSCPRAQPDA ISRLLEELQR LETELGQPAE RWKDTWDRVK
  1681  AAQRLEGRPD GRGTPSSLLV STAPHHRRSL GVYLQEGPVG STLSLSLDSD QSSGSTTSGS
  1741  RQAARRSTST LYSQFQTAES ENRSYEGTLY KKGAFMKPWK ARWFVLDKTK HQLRYYDHRV
  1801  DTECKGVIDL AEVEAVAPGT PTMGAPKTVD EKAFFDVKTT RRVYNFCAQD VPSAQQWVDR
  1861  IQSCLSDA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SBF1 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)
0.34
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • hippocampal formation: 55 nTPM
  • testis: 54 nTPM
  • cerebral cortex: 53 nTPM
  • amygdala: 46 nTPM
  • thymus: 35 nTPM
  • skeletal muscle: 33 nTPM

Single-cell type

  • epicardial cells: 50 nCPM
  • esophageal apical cells: 48 nCPM
  • late primary spermatocytes: 44 nCPM
  • cardiomyocytes: 42 nCPM
  • undifferentiated spermatogonia: 37 nCPM
  • esophageal suprabasal cells: 35 nCPM

Immune cell

  • plasmacytoid DC: 2.6 nTPM
  • gdT-cell: 2.5 nTPM
  • naive CD8 T-cell: 2 nTPM
  • memory CD4 T-cell: 1.8 nTPM
  • memory CD8 T-cell: 1.7 nTPM
  • T-reg: 1.6 nTPM

Brain region

  • hippocampal formation: 188 nTPM
  • cerebral cortex: 179 nTPM
  • medulla oblongata: 163 nTPM
  • pons: 154 nTPM
  • white matter: 146 nTPM
  • amygdala: 145 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SBF1.

Disease | AllUniProt

Conditions SBF1 is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, demyelinating, type 4B3 (CMT4B3) MIM:615284

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 2,155 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.27
gnomAD pLI
1
gnomAD missense Z
0.53
DepMap mean gene effect
0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SBF1 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 SBF1 as an antibody target. Whether an autoantibody or antibody against SBF1 could matter depends on whether native SBF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SBF1 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 SBF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SBF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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