Seroatlas · Human Serome Atlas

ALMS1

Centrosome-associated protein ALMS1

Also known as: ALMS1_HUMAN, KIAA0328

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

Protein identityUniProt · HPA

UniProt accession
Q8TCU4
Gene
ALMS1
Ensembl
ENSG00000116127
Chromosome
2
Canonical length
4168 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Microtubules,Centrosome,Mitochondria,Basal body,Cytosol,End piece

OverviewNCBI Gene

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

4168 residues, UniProt reviewed canonical sequence.

>Q8TCU4|ALMS1
     1  MEPEDLPWPG ELEEEEEEEE EEEEEEEEAA AAAAANVDDV VVVEEVEEEA GRELDSDSHY
    61  GPQHLESIDD EEDEEAKAWL QAHPGRILPP LSPPQHRYSE GERTSLEKIV PLTCHVWQQI
   121  VYQGNSRTQI SDTNVVCLET TAQRGSGDDQ KTESWHCLPQ EMDSSQTLDT SQTRFNVRTE
   181  DTEVTDFPSL EEGILTQSEN QVKEPNRDLF CSPLLVIQDS FASPDLPLLT CLTQDQEFAP
   241  DSLFHQSELS FAPLRGIPDK SEDTEWSSRP SEVSEALFQA TAEVASDLAS SRFSVSQHPL
   301  IGSTAVGSQC PFLPSEQGNN EETISSVDEL KIPKDCDRYD DLCSYMSWKT RKDTQWPENN
   361  LADKDQVSVA TSFDITDENI ATKRSDHFDA ARSYGQYWTQ EDSSKQAETY LTKGLQGKVE
   421  SDVITLDGLN ENAVVCSERV AELQRKPTRE SEYHSSDLRM LRMSPDTVPK APKHLKAGDT
   481  SKGGIAKVTQ SNLKSGITTT PVDSDIGSHL SLSLEDLSQL AVSSPLETTT GQHTDTLNQK
   541  TLADTHLTEE TLKVTAIPEP ADQKTATPTV LSSSHSHRGK PSIFYQQGLP DSHLTEEALK
   601  VSAAPGLADQ TTGMSTLTST SYSHREKPGT FYQQELPESN LTEEPLEVSA APGPVEQKTG
   661  IPTVSSTSHS HVEDLLFFYR QTLPDGHLTD QALKVSAVSG PADQKTGTAT VLSTPHSHRE
   721  KPGIFYQQEF ADSHQTEETL TKVSATPGPA DQKTEIPAVQ SSSYSQREKP SILYPQDLAD
   781  SHLPEEGLKV SAVAGPADQK TGLPTVPSSA YSHREKLLVF YQQALLDSHL PEEALKVSAV
   841  SGPADGKTGT PAVTSTSSAS SSLGEKPSAF YQQTLPNSHL TEEALKVSIV PGPGDQKTGI
   901  PSAPSSFYSH REKPIIFSQQ TLPDFLFPEE ALKVSAVSVL AAQKTGTPTV SSNSHSHSEK
   961  SSVFYQQELP DSDLPRESLK MSAIPGLTDQ KTVPTPTVPS GSFSHREKPS IFYQQEWPDS
  1021  YATEKALKVS TGPGPADQKT EIPAVQSSSY PQREKPSVLY PQVLSDSHLP EESLKVSAFP
  1081  GPADQMTDTP AVPSTFYSQR EKPGIFYQQT LPESHLPKEA LKISVAPGLA DQKTGTPTVT
  1141  STSYSQHREK PSIFHQQALP GTHIPEEAQK VSAVTGPGNQ KTWIPRVLST FYSQREKPGI
  1201  FYQQTLPGSH IPEEAQKVSP VLGPADQKTG TPTPTSASYS HTEKPGIFYQ QVLPDNHPTE
  1261  EALKISVASE PVDQTTGTPA VTSTSYSQYR EKPSIFYQQS LPSSHLTEEA KNVSAVPGPA
  1321  DQKTVIPILP STFYSHTEKP GVFYQQVLPH SHPTEEALKI SVASEPVDQT TGTPTVTSTS
  1381  YSQHTEKPSI FYQQSLPGSH LTEEAKNVSA VPGPGDRKTG IPTLPSTFYS HTEKPGSFYQ
  1441  QVLPHSHLPE EALEVSVAPG PVDQTIGTPT VTSPSSSFGE KPIVIYKQAF PEGHLPEESL
  1501  KVSVAPGPVG QTTGAPTITS PSYSQHRAKS GSFYQLALLG SQIPEEALRV SSAPGPADQT
  1561  TGIPTITSTS YSFGEKPIVN YKQAFPDGHL PEEALKVSIV SGPTEKKTDI PAGPLGSSAL
  1621  GEKPITFYRQ ALLDSPLNKE VVKVSAAPGP ADQKTETLPV HSTSYSNRGK PVIFYQQTLS
  1681  DSHLPEEALK VPPVPGPDAQ KTETPSVSSS LYSYREKPIV FYQQALPDSE LTQEALKVSA
  1741  VPQPADQKTG LSTVTSSFYS HTEKPNISYQ QELPDSHLTE EALKVSNVPG PADQKTGVST
  1801  VTSTSYSHRE KPIVSYQREL PHFTEAGLKI LRVPGPADQK TGINILPSNS YPQREHSVIS
  1861  YEQELPDLTE VTLKAIGVPG PADQKTGIQI ASSSSYSNRE KASIFHQQEL PDVTEEALNV
  1921  FVVPGQGDRK TEIPTVPLSY YSRREKPSVI SQQELPDSHL TEEALKVSPV SIPAEQKTGI
  1981  PIGLSSSYSH SHKEKLKIST VHIPDDQKTE FPAATLSSYS QIEKPKISTV IGPNDQKTPS
  2041  QTAFHSSYSQ TVKPNILFQQ QLPDRDQSKG ILKISAVPEL TDVNTGKPVS LSSSYFHREK
  2101  SNIFSPQELP GSHVTEDVLK VSTIPGPAGQ KTVLPTALPS SFSHREKPDI FYQKDLPDRH
  2161  LTEDALKISS ALGQADQITG LQTVPSGTYS HGENHKLVSE HVQRLIDNLN SSDSSVSSNN
  2221  VLLNSQADDR VVINKPESAG FRDVGSEEIQ DAENSAKTLK EIRTLLMEAE NMALKRCNFP
  2281  APLARFRDIS DISFIQSKKV VCFKEPSSTG VSNGDLLHRQ PFTEESPSSR CIQKDIGTQT
  2341  NLKCRRGIEN WEFISSTTVR SPLQEAESKV SMALEETLRQ YQAAKSVMRS EPEGCSGTIG
  2401  NKIIIPMMTV IKSDSSSDAS DGNGSCSWDS NLPESLESVS DVLLNFFPYV SPKTSITDSR
  2461  EEEGVSESED GGGSSVDSLA AHVKNLLQCE SSLNHAKEIL RNAEEEESRV RAHAWNMKFN
  2521  LAHDCGYSIS ELNEDDRRKV EEIKAELFGH GRTTDLSKGL QSPRGMGCKP EAVCSHIIIE
  2581  SHEKGCFRTL TSEHPQLDRH PCAFRSAGPS EMTRGRQNPS SCRAKHVNLS ASLDQNNSHF
  2641  KVWNSLQLKS HSPFQNFIPD EFKISKGLRM PFDEKMDPWL SELVEPAFVP PKEVDFHSSS
  2701  QMPSPEPMKK FTTSITFSSH RHSKCISNSS VVKVGVTEGS QCTGASVGVF NSHFTEEQNP
  2761  PRDLKQKTSS PSSFKMHSNS QDKEVTILAE GRRQSQKLPV DFERSFQEEK PLERSDFTGS
  2821  HSEPSTRANC SNFKEIQISD NHTLISMGRP SSTLGVNRSS SRLGVKEKNV TITPDLPSCI
  2881  FLEQRELFEQ SKAPRADDHV RKHHSPSPQH QDYVAPDLPS CIFLEQRELF EQCKAPYVDH
  2941  QMRENHSPLP QGQDSIASDL PSPISLEQCQ SKAPGVDDQM NKHHFPLPQG QDCVVEKNNQ
  3001  HKPKSHISNI NVEAKFNTVV SQSAPNHCTL AASASTPPSN RKALSCVHIT LCPKTSSKLD
  3061  SGTLDERFHS LDAASKARMN SEFNFDLHTV SSRSLEPTSK LLTSKPVAQD QESLGFLGPK
  3121  SSLDFQVVQP SLPDSNTITQ DLKTIPSQNS QIVTSRQIQV NISDFEGHSN PEGTPVFADR
  3181  LPEKMKTPLS AFSEKLSSDA VTQITTESPE KTLFSSEIFI NAEDRGHEII EPGNQKLRKA
  3241  PVKFASSSSV QQVTFSRGTD GQPLLLPYKP SGSTKMYYVP QLRQIPPSPD SKSDTTVESS
  3301  HSGSNDAIAP DFPAQVLGTR DDDLSATVNI KHKEGIYSKR VVTKASLPVG EKPLQNENAD
  3361  ASVQVLITGD ENLSDKKQQE IHSTRAVTEA AQAKEKESLQ KDTADSSAAA AAEHSAQVGD
  3421  PEMKNLPDTK AITQKEEIHR KKTVPEEAWP NNKESLQINI EESECHSEFE NTTRSVFRSA
  3481  KFYIHHPVHL PSDQDICHES LGKSVFMRHS WKDFFQHHPD KHREHMCLPL PYQNMDKTKT
  3541  DYTRIKSLSI NVNLGNKEVM DTTKSQVRDY PKHNGQISDP QRDQKVTPEQ TTQHTVSLNE
  3601  LWNKYRERQR QQRQPELGDR KELSLVDRLD RLAKILQNPI THSLQVSEST HDDSRGERSV
  3661  KEWSGRQQQR NKLQKKKRFK SLEKSHKNTG ELKKSKVLSH HRAGRSNQIK IEQIKFDKYI
  3721  LSKQPGFNYI SNTSSDCRPS EESELLTDTT TNILSGTTST VESDILTQTD REVALHERSS
  3781  SVSTIDTARL IQAFGHERVC LSPRRIKLYS SITNQQRRYL EKRSKHSKKV LNTGHPLVTS
  3841  EHTRRRHIQV ANHVISSDSI SSSASSFLSS NSTFCNKQNV HMLNKGIQAG NLEIVNGAKK
  3901  HTRDVGITFP TPSSSEAKLE ENSDVTSWSE EKREEKMLFT GYPEDRKLKK NKKNSHEGVS
  3961  WFVPVENVES RSKKENVPNT CGPGISWFEP ITKTRPWREP LREQNCQGQH LDGRGYLAGP
  4021  GREAGRDLLR PFVRATLQES LQFHRPDFIS RSGERIKRLK LIVQERKLQS MLQTERDALF
  4081  NIDRERQGHQ NRMCPLPKRV FLAIQKNKPI SKKEMIQRSK RIYEQLPEVQ KKREEEKRKS
  4141  EYKSYRLRAQ LYKKRVTNQL LGRKVPWD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALMS1 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
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • testis: 21 nTPM
  • ovary: 10 nTPM
  • retina: 8.1 nTPM
  • thymus: 8.1 nTPM
  • cervix: 6.3 nTPM
  • endometrium: 6.2 nTPM

Single-cell type

  • respiratory ciliated cells: 259 nCPM
  • ependymal cells: 222 nCPM
  • endometrial ciliated cells: 217 nCPM
  • sertoli cells: 204 nCPM
  • rod photoreceptor cells: 196 nCPM
  • somatotrophs: 181 nCPM

Immune cell

  • eosinophil: 0.4 nTPM
  • basophil: 0.2 nTPM
  • memory B-cell: 0.2 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • naive CD8 T-cell: 0.2 nTPM
  • NK-cell: 0.2 nTPM

Brain region

  • cerebellum: 42 nTPM
  • white matter: 25 nTPM
  • medulla oblongata: 25 nTPM
  • basal ganglia: 24 nTPM
  • midbrain: 24 nTPM
  • pons: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALMS1.

Disease | AllUniProt

Conditions ALMS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

1,001 pathogenic / likely-pathogenic of 7,424 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)
0.87
gnomAD pLI
0
gnomAD missense Z
-2.99
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ALMS1 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 ALMS1 as an antibody target. Whether an autoantibody or antibody against ALMS1 could matter depends on whether native ALMS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALMS1 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 ALMS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ALMS1. 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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