Seroatlas · Human Serome Atlas

NBPF12

NBPF family member NBPF12

Also known as: COAS1, KIAA1245, NBPFC_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5TAG4
Gene: NBPF12
Ensembl: ENSG00000268043
Chromosome: 1
Canonical length: 1457 aa
Protein class: Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles,Microtubules,Cytokinetic bridge,Primary cilium,Cytosol,Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

1457 residues, UniProt reviewed canonical sequence.

>Q5TAG4|NBPF12
     1  MVVSAGPWSS EKAEMNILEI NEKLRPQLAE NKQQFRNLKE RCFLTQLAGF LANRQKKYKY
    61  EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH SQERELTQLR EKLREGRDAS
   121  RSLNEHLQAL LTPDEPDKSQ GQDLQEQLAE GCRLAQQLVQ KLSPENDEDE DEDVQVEEDE
   181  KVLESSAPRE VQKAEESKVP EDSLEECAIT CSNSHGPCDS IQPHKNIKIT FEEDKVNSTV
   241  VVDRKSSHDE CQDALNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLRPQLA
   301  EKKQQFRSLK EKCFVTQLAG FLAKQQNKYK YEECKDLIKS MLRNELQFKE EKLAEQLKQA
   361  EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNEHLQA LLTPDEPDKS QGQDLQEQLA
   421  EGCRLAQHLV QKLSPENDED EDEDVQVEED EKVLESSSPR EMQKAEESKV PEDSLEECAI
   481  TCSNSHGPCD SNQPHKNIKI TFEEDKVNSS LVVDRESSHD ECQDALNILP VPGPTSSATN
   541  VSMVVSAGPL SSEKAEMNIL EINEKLRPQL AEKKQQFRSL KEKCFVTQVA CFLAKQQNKY
   601  KYEECKDLLK SMLRNELQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ LREKLREGRD
   661  ASRSLNEHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQHL VQKLSPENDN DDDEDVQVEV
   721  AEKVQKSSSP REMQKAEEKE VPEDSLEECA ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS
   781  TLIGSSSHVE WEDAVHIIPE NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS
   841  IPPERLASYQ SYSSTFHSLE EQQVCMAVDI GRHRWDQVKK EDQEATGPRL SRELLAEKEP
   901  EVLQDSLDRC YSTPSVYLGL TDSCQPYRSA FYVLEQQRVG LAVDMDEIEK YQEVEEDQDP
   961  SCPRLSRELL AEKEPEVLQD SLDRCYSTPS GYLELPDLGQ PYRSAVYSLE EQYLGLALDV
  1021  DRIKKDQEEE EDQGPPCPRL SRELLEVVEP EVLQDSLDRC YSTPSSCLEQ PDSCQPYRSS
  1081  FYALEEKHVG FSLDVGEIEK KGKGKKRRGR RSKKKRRRGR KEGEEDQNPP CPRLSRELLA
  1141  EKEPEVLQDS LDRWYSTPSV YLGLTDPCQP YRSAFYVLEQ QRVGLAVDMD EIEKYQEVEE
  1201  DQDPSCPRLS RELLAEKEPE VLQDSLDRCY STPSGYLELP DLGQPYRSAV YSLEEQYLGL
  1261  ALDVDRIKKD QEEEEDQGPP CPRLSRELLE VVEPEVLQDS LDRCYSTPSS CLEQPDSCQP
  1321  YRSSFYALEE KHVGFSLDVG EIEKKGKGKK RRGRRSKKKR RRGRKEGEED QNPPCPRLNS
  1381  VLMEVEEPEV LQDSLDRCYS TPSMYFELPD SFQHYRSVFY SFEEQHITFA LDMDNSFFTL
  1441  TVTSLHLVFQ MGVIFPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBPF12 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: 55 nTPM

Expression across tissuesHPA

Tissue

pancreas: 55 nTPM
stomach: 41 nTPM
liver: 16 nTPM
bone marrow: 13 nTPM
cerebellum: 11 nTPM
spinal cord: 11 nTPM

Single-cell type

gastric chief cells: 565 nCPM
mucous neck cells: 247 nCPM
hepatocytes: 95 nCPM
adipocytes: 86 nCPM
oligodendrocyte progenitor cells: 68 nCPM
oligodendrocytes: 68 nCPM

Immune cell

basophil: 3.9 nTPM
eosinophil: 1.6 nTPM
gdT-cell: 1.5 nTPM
naive B-cell: 1.5 nTPM
memory B-cell: 1.4 nTPM
naive CD4 T-cell: 1.4 nTPM

Brain region

white matter: 31 nTPM
medulla oblongata: 26 nTPM
pons: 25 nTPM
basal ganglia: 23 nTPM
thalamus: 23 nTPM
cerebral cortex: 20 nTPM

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): 1.83
gnomAD pLI: 0
gnomAD missense Z: -5.43

OntologyGO

Cellular components

cytoplasm

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NBPF12 as an antibody target. Whether an autoantibody or antibody against NBPF12 could matter depends on whether native NBPF12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBPF12 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 NBPF12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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