Seroatlas · Human Serome Atlas

HMCN1

Hemicentin-1

Also known as: ARMD1, FBLN6, FIBL-6, FIBL6, HMCN1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96RW7
Gene: HMCN1
Ensembl: ENSG00000143341
Chromosome: 1
Canonical length: 5635 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Golgi apparatus,Cytosol
Secretome location: Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

5635 residues, UniProt reviewed canonical sequence.

>Q96RW7|HMCN1
     1  MISWEVVHTV FLFALLYSSL AQDASPQSEI RAEEIPEGAS TLAFVFDVTG SMYDDLVQVI
    61  EGASKILETS LKRPKRPLFN FALVPFHDPE IGPVTITTDP KKFQYELREL YVQGGGDCPE
   121  MSIGAIKIAL EISLPGSFIY VFTDARSKDY RLTHEVLQLI QQKQSQVVFV LTGDCDDRTH
   181  IGYKVYEEIA STSSGQVFHL DKKQVNEVLK WVEEAVQASK VHLLSTDHLE QAVNTWRIPF
   241  DPSLKEVTVS LSGPSPMIEI RNPLGKLIKK GFGLHELLNI HNSAKVVNVK EPEAGMWTVK
   301  TSSSGRHSVR ITGLSTIDFR AGFSRKPTLD FKKTVSRPVQ GIPTYVLLNT SGISTPARID
   361  LLELLSISGS SLKTIPVKYY PHRKPYGIWN ISDFVPPNEA FFLKVTGYDK DDYLFQRVSS
   421  VSFSSIVPDA PKVTMPEKTP GYYLQPGQIP CSVDSLLPFT LSFVRNGVTL GVDQYLKESA
   481  SVNLDIAKVT LSDEGFYECI AVSSAGTGRA QTFFDVSEPP PVIQVPNNVT VTPGERAVLT
   541  CLIISAVDYN LTWQRNDRDV RLAEPARIRT LANLSLELKS VKFNDAGEYH CMVSSEGGSS
   601  AASVFLTVQE PPKVTVMPKN QSFTGGSEVS IMCSATGYPK PKIAWTVNDM FIVGSHRYRM
   661  TSDGTLFIKN AAPKDAGIYG CLASNSAGTD KQNSTLRYIE APKLMVVQSE LLVALGDITV
   721  MECKTSGIPP PQVKWFKGDL ELRPSTFLII DPLLGLLKIQ ETQDLDAGDY TCVAINEAGR
   781  ATGKITLDVG SPPVFIQEPA DVSMEIGSNV TLPCYVQGYP EPTIKWRRLD NMPIFSRPFS
   841  VSSISQLRTG ALFILNLWAS DKGTYICEAE NQFGKIQSET TVTVTGLVAP LIGISPSVAN
   901  VIEGQQLTLP CTLLAGNPIP ERRWIKNSAM LLQNPYITVR SDGSLHIERV QLQDGGEYTC
   961  VASNVAGTNN KTTSVVVHVL PTIQHGQQIL STIEGIPVTL PCKASGNPKP SVIWSKKGEL
  1021  ISTSSAKFSA GADGSLYVVS PGGEESGEYV CTATNTAGYA KRKVQLTVYV RPRVFGDQRG
  1081  LSQDKPVEIS VLAGEEVTLP CEVKSLPPPI ITWAKETQLI SPFSPRHTFL PSGSMKITET
  1141  RTSDSGMYLC VATNIAGNVT QAVKLNVHVP PKIQRGPKHL KVQVGQRVDI PCNAQGTPLP
  1201  VITWSKGGST MLVDGEHHVS NPDGTLSIDQ ATPSDAGIYT CVATNIAGTD ETEITLHVQE
  1261  PPTVEDLEPP YNTTFQERVA NQRIEFPCPA KGTPKPTIKW LHNGRELTGR EPGISILEDG
  1321  TLLVIASVTP YDNGEYICVA VNEAGTTERK YNLKVHVPPV IKDKEQVTNV SVLLNQLTNL
  1381  FCEVEGTPSP IIMWYKDNVQ VTESSTIQTV NNGKILKLFR ATPEDAGRYS CKAINIAGTS
  1441  QKYFNIDVLV PPTIIGTNFP NEVSVVLNRD VALECQVKGT PFPDIHWFKD GKPLFLGDPN
  1501  VELLDRGQVL HLKNARRNDK GRYQCTVSNA AGKQAKDIKL TIYIPPSIKG GNVTTDISVL
  1561  INSLIKLECE TRGLPMPAIT WYKDGQPIMS SSQALYIDKG QYLHIPRAQV SDSATYTCHV
  1621  ANVAGTAEKS FHVDVYVPPM IEGNLATPLN KQVVIAHSLT LECKAAGNPS PILTWLKDGV
  1681  PVKANDNIRI EAGGKKLEIM SAQEIDRGQY ICVATSVAGE KEIKYEVDVL VPPAIEGGDE
  1741  TSYFIVMVNN LLELDCHVTG SPPPTIMWLK DGQLIDERDG FKILLNGRKL VIAQAQVSNT
  1801  GLYRCMAANT AGDHKKEFEV TVHVPPTIKS SGLSERVVVK YKPVALQCIA NGIPNPSITW
  1861  LKDDQPVNTA QGNLKIQSSG RVLQIAKTLL EDAGRYTCVA TNAAGETQQH IQLHVHEPPS
  1921  LEDAGKMLNE TVLVSNPVQL ECKAAGNPVP VITWYKDNRL LSGSTSMTFL NRGQIIDIES
  1981  AQISDAGIYK CVAINSAGAT ELFYSLQVHV APSISGSNNM VAVVVNNPVR LECEARGIPA
  2041  PSLTWLKDGS PVSSFSNGLQ VLSGGRILAL TSAQISDTGR YTCVAVNAAG EKQRDIDLRV
  2101  YVPPNIMGEE QNVSVLISQA VELLCQSDAI PPPTLTWLKD GHPLLKKPGL SISENRSVLK
  2161  IEDAQVQDTG RYTCEATNVA GKTEKNYNVN IWVPPNIGGS DELTQLTVIE GNLISLLCES
  2221  SGIPPPNLIW KKKGSPVLTD SMGRVRILSG GRQLQISIAE KSDAALYSCV ASNVAGTAKK
  2281  EYNLQVYIRP TITNSGSHPT EIIVTRGKSI SLECEVQGIP PPTVTWMKDG HPLIKAKGVE
  2341  ILDEGHILQL KNIHVSDTGR YVCVAVNVAG MTDKKYDLSV HAPPSIIGNH RSPENISVVE
  2401  KNSVSLTCEA SGIPLPSITW FKDGWPVSLS NSVRILSGGR MLRLMQTTME DAGQYTCVVR
  2461  NAAGEERKIF GLSVLVPPHI VGENTLEDVK VKEKQSVTLT CEVTGNPVPE ITWHKDGQPL
  2521  QEDEAHHIIS GGRFLQITNV QVPHTGRYTC LASSPAGHKS RSFSLNVFVS PTIAGVGSDG
  2581  NPEDVTVILN SPTSLVCEAY SYPPATITWF KDGTPLESNR NIRILPGGRT LQILNAQEDN
  2641  AGRYSCVATN EAGEMIKHYE VKVYIPPIIN KGDLWGPGLS PKEVKIKVNN TLTLECEAYA
  2701  IPSASLSWYK DGQPLKSDDH VNIAANGHTL QIKEAQISDT GRYTCVASNI AGEDELDFDV
  2761  NIQVPPSFQK LWEIGNMLDT GRNGEAKDVI INNPISLYCE TNAAPPPTLT WYKDGHPLTS
  2821  SDKVLILPGG RVLQIPRAKV EDAGRYTCVA VNEAGEDSLQ YDVRVLVPPI IKGANSDLPE
  2881  EVTVLVNKSA LIECLSSGSP APRNSWQKDG QPLLEDDHHK FLSNGRILQI LNTQITDIGR
  2941  YVCVAENTAG SAKKYFNLNV HVPPSVIGPK SENLTVVVNN FISLTCEVSG FPPPDLSWLK
  3001  NEQPIKLNTN TLIVPGGRTL QIIRAKVSDG GEYTCIAINQ AGESKKKFSL TVYVPPSIKD
  3061  HDSESLSVVN VREGTSVSLE CESNAVPPPV ITWYKNGRMI TESTHVEILA DGQMLHIKKA
  3121  EVSDTGQYVC RAINVAGRDD KNFHLNVYVP PSIEGPEREV IVETISNPVT LTCDATGIPP
  3181  PTIAWLKNHK RIENSDSLEV RILSGGSKLQ IARSQHSDSG NYTCIASNME GKAQKYYFLS
  3241  IQVPPSVAGA EIPSDVSVLL GENVELVCNA NGIPTPLIQW LKDGKPIASG ETERIRVSAN
  3301  GSTLNIYGAL TSDTGKYTCV ATNPAGEEDR IFNLNVYVTP TIRGNKDEAE KLMTLVDTSI
  3361  NIECRATGTP PPQINWLKNG LPLPLSSHIR LLAAGQVIRI VRAQVSDVAV YTCVASNRAG
  3421  VDNKHYNLQV FAPPNMDNSM GTEEITVLKG SSTSMACITD GTPAPSMAWL RDGQPLGLDA
  3481  HLTVSTHGMV LQLLKAETED SGKYTCIASN EAGEVSKHFI LKVLEPPHIN GSEEHEEISV
  3541  IVNNPLELTC IASGIPAPKM TWMKDGRPLP QTDQVQTLGG GEVLRISTAQ VEDTGRYTCL
  3601  ASSPAGDDDK EYLVRVHVPP NIAGTDEPRD ITVLRNRQVT LECKSDAVPP PVITWLRNGE
  3661  RLQATPRVRI LSGGRYLQIN NADLGDTANY TCVASNIAGK TTREFILTVN VPPNIKGGPQ
  3721  SLVILLNKST VLECIAEGVP TPRITWRKDG AVLAGNHARY SILENGFLHI QSAHVTDTGR
  3781  YLCMATNAAG TDRRRIDLQV HVPPSIAPGP TNMTVIVNVQ TTLACEATGI PKPSINWRKN
  3841  GHLLNVDQNQ NSYRLLSSGS LVIISPSVDD TATYECTVTN GAGDDKRTVD LTVQVPPSIA
  3901  DEPTDFLVTK HAPAVITCTA SGVPFPSIHW TKNGIRLLPR GDGYRILSSG AIEILATQLN
  3961  HAGRYTCVAR NAAGSAHRHV TLHVHEPPVI QPQPSELHVI LNNPILLPCE ATGTPSPFIT
  4021  WQKEGINVNT SGRNHAVLPS GGLQISRAVR EDAGTYMCVA QNPAGTALGK IKLNVQVPPV
  4081  ISPHLKEYVI AVDKPITLSC EADGLPPPDI TWHKDGRAIV ESIRQRVLSS GSLQIAFVQP
  4141  GDAGHYTCMA ANVAGSSSTS TKLTVHVPPR IRSTEGHYTV NENSQAILPC VADGIPTPAI
  4201  NWKKDNVLLA NLLGKYTAEP YGELILENVV LEDSGFYTCV ANNAAGEDTH TVSLTVHVLP
  4261  TFTELPGDVS LNKGEQLRLS CKATGIPLPK LTWTFNNNII PAHFDSVNGH SELVIERVSK
  4321  EDSGTYVCTA ENSVGFVKAI GFVYVKEPPV FKGDYPSNWI EPLGGNAILN CEVKGDPTPT
  4381  IQWNRKGVDI EISHRIRQLG NGSLAIYGTV NEDAGDYTCV ATNEAGVVER SMSLTLQSPP
  4441  IITLEPVETV INAGGKIILN CQATGEPQPT ITWSRQGHSI SWDDRVNVLS NNSLYIADAQ
  4501  KEDTSEFECV ARNLMGSVLV RVPVIVQVHG GFSQWSAWRA CSVTCGKGIQ KRSRLCNQPL
  4561  PANGGKPCQG SDLEMRNCQN KPCPVDGSWS EWSLWEECTR SCGRGNQTRT RTCNNPSVQH
  4621  GGRPCEGNAV EIIMCNIRPC PVHGAWSAWQ PWGTCSESCG KGTQTRARLC NNPPPAFGGS
  4681  YCDGAETQMQ VCNERNCPIH GKWATWASWS ACSVSCGGGA RQRTRGCSDP VPQYGGRKCE
  4741  GSDVQSDFCN SDPCPTHGNW SPWSGWGTCS RTCNGGQMRR YRTCDNPPPS NGGRACGGPD
  4801  SQIQRCNTDM CPVDGSWGSW HSWSQCSASC GGGEKTRKRL CDHPVPVKGG RPCPGDTTQV
  4861  TRCNVQACPG GPQRARGSVI GNINDVEFGI AFLNATITDS PNSDTRIIRA KITNVPRSLG
  4921  SAMRKIVSIL NPIYWTTAKE IGEAVNGFTL TNAVFKRETQ VEFATGEILQ MSHIARGLDS
  4981  DGSLLLDIVV SGYVLQLQSP AEVTVKDYTE DYIQTGPGQL YAYSTRLFTI DGISIPYTWN
  5041  HTVFYDQAQG RMPFLVETLH ASSVESDYNQ IEETLGFKIH ASISKGDRSN QCPSGFTLDS
  5101  VGPFCADEDE CAAGNPCSHS CHNAMGTYYC SCPKGLTIAA DGRTCQDIDE CALGRHTCHA
  5161  GQDCDNTIGS YRCVVRCGSG FRRTSDGLSC QDINECQESS PCHQRCFNAI GSFHCGCEPG
  5221  YQLKGRKCMD VNECRQNVCR PDQHCKNTRG GYKCIDLCPN GMTKAENGTC IDIDECKDGT
  5281  HQCRYNQICE NTRGSYRCVC PRGYRSQGVG RPCMDINECE QVPKPCAHQC SNTPGSFKCI
  5341  CPPGQHLLGD GKSCAGLERL PNYGTQYSSY NLARFSPVRN NYQPQQHYRQ YSHLYSSYSE
  5401  YRNSRTSLSR TRRTIRKTCP EGSEASHDTC VDIDECENTD ACQHECKNTF GSYQCICPPG
  5461  YQLTHNGKTC QDIDECLEQN VHCGPNRMCF NMRGSYQCID TPCPPNYQRD PVSGFCLKNC
  5521  PPNDLECALS PYALEYKLVS LPFGIATNQD LIRLVAYTQD GVMHPRTTFL MVDEEQTVPF
  5581  ALRDENLKGV VYTTRPLREA ETYRMRVRAS SYSANGTIEY QTTFIVYIAV SAYPY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HMCN1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0
Highest tissue expression: 66 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 66 nTPM
lung: 19 nTPM
adipose tissue: 9.1 nTPM
colon: 9.1 nTPM
heart muscle: 8 nTPM
breast: 7.9 nTPM

Single-cell type

pituicytes/fscs: 764 nCPM
fibro-adipogenic progenitors: 372 nCPM
distal convoluted tubule cells: 253 nCPM
salivary duct cells: 252 nCPM
transitional alveolar cells: 244 nCPM
retinal horizontal cells: 236 nCPM

Immune cell

T-reg: 0.7 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

midbrain: 3.2 nTPM
thalamus: 2.9 nTPM
medulla oblongata: 2.5 nTPM
pons: 2.5 nTPM
spinal cord: 2.2 nTPM
choroid plexus: 2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HMCN1.

Disease | AllUniProt

Conditions HMCN1 is implicated in, by any mechanism.

Macular degeneration, age-related, 1 (ARMD1) MIM:603075

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 3,860 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Age related macular degeneration 1

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): 0.48
gnomAD pLI: 0
gnomAD missense Z: 0.28
DepMap mean gene effect: -0.12
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HMCN1 as an antibody target. Whether an autoantibody or antibody against HMCN1 could matter depends on whether native HMCN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HMCN1 is annotated at the cell surface, where native HMCN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label HMCN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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