Seroatlas · Human Serome Atlas

KIAA1549

UPF0606 protein KIAA1549

Also known as: K1549_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9HCM3
Gene
KIAA1549
Ensembl
ENSG00000122778
Chromosome
7
Canonical length
1950 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location
Nuclear membrane,Intermediate filaments

OverviewNCBI Gene

The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

Canonical amino-acid sequenceUniProt

1950 residues, UniProt reviewed canonical sequence.

>Q9HCM3|KIAA1549
     1  MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW LLLLARPASC
    61  APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG SQHSSPLHVT APPSATTFDT
   121  AFFNQGKQTK STADPSIFVA TYVSVTSKEV AVNDDEMDNF LPDTHWTTPR MVSPIQYITV
   181  SPPGLPREAL EPMLTPSLPM VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE
   241  GIVPTPGRNL VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP
   301  LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA ALAFSRTHSP
   361  LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP GPVDNTHILS PVSSFRPYTW
   421  CAACTVPSPQ QVLATSLMEK DVGSGDGAET LCMTVLEESS ISLMSSVVAD FSEFEEDPQV
   481  FNTLFPSRPI VPLSSRSMEI SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS
   541  LSVAETQVTP SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES
   601  SLFSDQERSS FSEHKPRGAL DFASSFFSTP PLELSGSISS PSEAPASLSL MPSDLSPFTS
   661  QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS ELPLNTIMLL PSRSEVSPWS
   721  SFPSDSLEFV EASTVSLTDS EAHFTSAFIE TTSYLESSLI SHESAVTALV PPGSESFDIL
   781  TAGIQATSPL TTVHTTPILT ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT
   841  DAYLPSGSSF VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL
   901  MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT VPDAYLITTV
   961  LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL VTSGPFVYTA ISVINVLINS
  1021  KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL QFVPPSVDTG FCNFTQRIEK GLMTALFEVR
  1081  KHHQGTYNLT VQILNITISS SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF
  1141  SFYLGYPVLQ IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL
  1201  SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER LSAVKSSDLI
  1261  NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW VIVGVVIPVL VVMVIVVILY
  1321  WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV KGFDFAKQHL GQHNKDDILI IHEPAPLPGP
  1381  LKDHTTPSEN GDVPSPKSKI PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG
  1441  RSHRAPQSGP PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ
  1501  RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV DDLSSGDTKE
  1561  RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK PRRKHQVNGC PADAEKDRLI
  1621  TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA DVQTPSSVEL GRYPALPFPA SQYIPPQPSI
  1681  EEARQTMHSL LDDAFALVAP SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP
  1741  AQTANNPCSR YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY
  1801  SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG PGWPSYGEDE
  1861  AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH RGLQGPGLGY PTSSTEDLQP
  1921  GHSSASLIKA IREELLRLSQ KQSTVQNFHS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIAA1549 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
2
Mean surface accessibility (rSASA)
0.61
Highest tissue expression
6 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 6 nTPM
  • retina: 5.3 nTPM
  • seminal vesicle: 5.2 nTPM
  • cerebral cortex: 4.1 nTPM
  • kidney: 3.7 nTPM
  • parathyroid gland: 2.3 nTPM

Single-cell type

  • mast cells: 421 nCPM
  • proximal tubule cells: 319 nCPM
  • renal collecting duct principal cells: 114 nCPM
  • rod photoreceptor cells: 102 nCPM
  • cone photoreceptor cells: 101 nCPM
  • oligodendrocyte progenitor cells: 95 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • hippocampal formation: 21 nTPM
  • cerebral cortex: 20 nTPM
  • amygdala: 17 nTPM
  • thalamus: 17 nTPM
  • basal ganglia: 17 nTPM
  • midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIAA1549.

Disease | AllUniProt

Conditions KIAA1549 is implicated in, by any mechanism.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 1,602 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)
0.3
gnomAD pLI
0.99
gnomAD missense Z
-0.09
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KIAA1549 as an antibody target. Whether an autoantibody or antibody against KIAA1549 could matter depends on whether native KIAA1549 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIAA1549 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 KIAA1549 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KIAA1549. 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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