Seroatlas · Human Serome Atlas

MACF1

Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5

Also known as: ABP620, ACF7, FLJ45612, FLJ46776, KIAA0465, KIAA0754, KIAA1251, Lnc-PMIF, MACF, MACF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UPN3
Gene: MACF1
Ensembl: ENSG00000127603
Chromosome: 1
Canonical length: 7388 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Plasma membrane,Cell Junctions,Actin filaments,Basal body

OverviewNCBI Gene

This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

7388 residues, UniProt reviewed canonical sequence.

>Q9UPN3|MACF1
     1  MSSSDEETLS ERSCRSERSC RSERSYRSER SGSLSPCPPG DTLPWNLPLH EQKKRKSQDS
    61  VLDPAERAVV RVADERDRVQ KKTFTKWVNK HLMKVRKHIN DLYEDLRDGH NLISLLEVLS
   121  GIKLPREKGR MRFHRLQNVQ IALDFLKQRQ VKLVNIRNDD ITDGNPKLTL GLIWTIILHF
   181  QISDIYISGE SGDMSAKEKL LLWTQKVTAG YTGIKCTNFS SCWSDGKMFN ALIHRYRPDL
   241  VDMERVQIQS NRENLEQAFE VAERLGVTRL LDAEDVDVPS PDEKSVITYV SSIYDAFPKV
   301  PEGGEGISAT EVDSRWQEYQ SRVDSLIPWI KQHTILMSDK TFPQNPVELK ALYNQYIHFK
   361  ETEILAKERE KGRIEELYKL LEVWIEFGRI KLPQGYHPND VEEEWGKLII EMLEREKSLR
   421  PAVERLELLL QIANKIQNGA LNCEEKLTLA KNTLQADAAH LESGQPVQCE SDVIMYIQEC
   481  EGLIRQLQVD LQILRDENYY QLEELAFRVM RLQDELVTLR LECTNLYRKG HFTSLELVPP
   541  STLTTTHLKA EPLTKATHSS STSWFRKPMT RAELVAISSS EDEGNLRFVY ELLSWVEEMQ
   601  MKLERAEWGN DLPSVELQLE TQQHIHTSVE ELGSSVKEAR LYEGKMSQNF HTSYAETLGK
   661  LETQYCKLKE TSSFRMRHLQ SLHKFVSRAT AELIWLNEKE EEELAYDWSD NNSNISAKRN
   721  YFSELTMELE EKQDVFRSLQ DTAELLSLEN HPAKQTVEAY SAAVQSQLQW MKQLCLCVEQ
   781  HVKENTAYFQ FFSDARELES FLRNLQDSIK RKYSCDHNTS LSRLEDLLQD SMDEKEQLIQ
   841  SKSSVASLVG RSKTIVQLKP RSPDHVLKNT ISVKAVCDYR QIEITICKND ECVLEDNSQR
   901  TKWKVISPTG NEAMVPSVCF LIPPPNKDAI EMASRVEQSY QKVMALWHQL HVNTKSLISW
   961  NYLRKDLDLV QTWNLEKLRS SAPGECHQIM KNLQAHYEDF LQDSRDSVLF SVADRLRLEE
  1021  EVEACKARFQ HLMKSMENED KEETVAKMYI SELKNIRLRL EEYEQRVVKR IQSLASSRTD
  1081  RDAWQDNALR IAEQEHTQED LQQLRSDLDA VSMKCDSFLH QSPSSSSVPT LRSELNLLVE
  1141  KMDHVYGLST VYLNKLKTVD VIVRSIQDAE LLVKGYEIKL SQEEVVLADL SALEAHWSTL
  1201  RHWLSDVKDK NSVFSVLDEE IAKAKVVAEQ MSRLTPERNL DLERYQEKGS QLQERWHRVI
  1261  AQLEIRQSEL ESIQEVLGDY RACHGTLIKW IEETTAQQEM MKPGQAEDSR VLSEQLSQQT
  1321  ALFAEIERNQ TKLDQCQKFS QQYSTIVKDY ELQLMTYKAF VESQQKSPGK RRRMLSSSDA
  1381  ITQEFMDLRT RYTALVTLTT QHVKYISDAL RRLEEEEKVV EEEKQEHVEK VKELLGWVST
  1441  LARNTQGKAT SSETKESTDI EKAILEQQVL SEELTTKKEQ VSEAIKTSQI FLAKHGHKLS
  1501  EKEKKQISEQ LNALNKAYHD LCDGSANQLQ QLQSQLAHQT EQKECRAVAG VIDLGTVEIF
  1561  PIFKAMQKGL LDQDTGLVLL ESQVIMSGLI APETGENLSL EEGIARNLIN PQMYQQLREL
  1621  QDALALISRL TESRGPLSVV EAIEKRIISE TVGLKILEAH LATGGFSLSP SENCINLEEA
  1681  FHQGLISAWL HSVLESYLRT SKNLIDPNTA EKIGLLDLMQ RCIVHQESGF KLLPVKQLAG
  1741  GMVSLKSGRK VSIFRAVQEG LIDRQVTVRL LEAQLFAGGI VDPRTGHRLT VEEAVRHNLI
  1801  DQDMACAILI RQLQTGGIID TVTGQRLTID EAVSNDLVAA KIALVILESL WSFMGLLWPE
  1861  SGEILPITDA LEQGIVSTEL AHKILSNRQH IKALFLPATT EILSWKKAIE SGILDRDLAN
  1921  NLKSICIPDV MPHMQLADSA EQNINPGAAV LPCSKSHPKA TASQSENLLF QLMTHSYINV
  1981  QNGQRLLLLD KELMETLTSR DEYQTSPPKV VEIGHQRQKT PEGLQESANV KISGTFSSGW
  2041  TVRLPEFQFS SQNKEYPDRE DCTTEKGKKT TVETEDSSVE NPEQDLFVEQ KERNPNIDAL
  2101  KVINKVKLEV QRQLIGTQRE DQTAVSVREN ASRGHLLTIP PAEAEGVPLV VDKDVFSVET
  2161  PKKEHQPLRN TSFTCQNEQA HTLETEYIHD ETGGSHIKPQ SKKLQVQVKK TLGIKLELKS
  2221  ETDGNVHPLD KKEMLKKTFL AKDDHKESQE AQNIAGGSMM MSEKTDEEDS GREIFLSCSH
  2281  PLELLEEATL NVLSAQLLDG GIFHEQTGQK LLLNEAISRG IVPSHTAVKL MEKLNMFQGF
  2341  FDSQTCESLT TEEVINEGLM DEKLLHNVLM ADKAISGVLD PRTQTLCSVK DAVTVGLLDK
  2401  ETATRILERQ VVTGGIIDLK RGKKVSVTLA STLGLVDVAD QPELINLEKA SKGRDAEKTV
  2461  RERLISLQME TTGLIDPDSK APLTVVQSID RGLLEREEAV RLLTKQVVDG GIIHHISGMR
  2521  LSVDNAFRHG LIGEDLAEKL KRVENLNIHQ IFNPETKENI SLPKAIKLDL ITSDLKREIQ
  2581  EVQAFTGNFV DLISGQRLTL AEAKKEGLLT NEAVLSPGMM HGIVDPENCR IVPYSELVKK
  2641  CKIDIESGQR YLEVIPFSDI KDGVSDKVLT LSQAIQLGKV DFASTLKVLE AQANTGGIID
  2701  TATGKRLTLA SALEEKLVDE NMVRIIASHQ VLNGGIVDIF SDQRVTLVEA IEKRLISPEL
  2761  ANMIQIDSSE FSDHRAQIEK QEGIEVCALQ NEFLGKDMLI ACNQTAEMSC NKVEESERLF
  2821  QVENQSAQEK VKVRVSDGEQ AKKSREISLK EFGCKDQRKP RMSSDAKEFI SIINPHNLKG
  2881  KSLGQVSLTH PYSECDFKLK EVARNNMGND TNEEQEKAVT KIEIISHMKQ STSCLDSEEI
  2941  RENQGEVILE VQETYCETSG KLPSEQVLQQ PMNARVKSKR EKREVIVEES IRTCKPAFLS
  3001  EEKLYQETAI RDEHDSHIKS QPREMTSSEK GKEADTEMGF SITFKIEESS SQVVPQGISV
  3061  KHLDALTLFS SKQANEGKVN NLSLCLTLKP EENLSREIAC GAQSEPFPCM TPRPEGLHYQ
  3121  ESDGKAQVTG PSQISKTDKS FQGTTRQETN YQDSWVTSKT KETKHQISSS NECKEKSYQE
  3181  VSFDPARGLK LEEITVSRPD SKEVRYLEFS DRKDLHHQGS KSDDKLCGTL KSEIATQELT
  3241  GEKFLEMANP NVAGLEAGSI EDIVTQRGSR VLGSFLPEKL FKGVSQKENT GQQNAIISPT
  3301  VLETSEEKTV SLTVCSAVKT EKTPQEKLRE SPGSEQTPFM TAPEGKGNGG VNPEPFRATQ
  3361  NVFTRQLCLE HDEKLVSYLS LLRNIEMRTK QIQPLELNLA ELQDLLCQAK VLERELKDLT
  3421  TLVSQELECV NQIIISQPQE VPAQLLKALE KDAKNLQKSL SSVSDTWNSR LLHFQNAVEI
  3481  EKTKVLNQHT QLEGRLQDLR AWVGNKNLIL NSKGSNSEID VDSLNLCLQQ YEDLKQPMAE
  3541  RKAQLDALAF DIQFFISEHA QDLSPQQNRQ MLRLLNELQR SFQDILEQTA AQVDALQGHL
  3601  QQMEQEALVK TLQKQQNTCH QQLEDLCSWV GQAERALAGH QGRTTQQDLS ALQKNQSDLK
  3661  DLQDDIQNRA TSFATVVKDI EGFMEENQTK LSPRELTALR EKLHQAKEQY EALQEETRVA
  3721  QKELEEAVTS ALQQETEKSK AAKELAENKK KIDALLDWVT SVGSSGGQLL TNLPGMEQLS
  3781  GASLEKGALD TTDGYMGVNQ APEKLDKQCE MMKARHQELL SQQQNFILAT QSAQAFLDQH
  3841  GHNLTPEEQQ MLQQKLGELK EQYSTSLAQS EAELKQVQTL QDELQKFLQD HKEFESWLER
  3901  SEKELENMHK GGSSPETLPS LLKRQGSFSE DVISHKGDLR FVTISGQKVL DMENSFKEGK
  3961  EPSEIGNLVK DKLKDATERY TALHSKCTRL GSHLNMLLGQ YHQFQNSADS LQAWMQACEA
  4021  NVEKLLSDTV ASDPGVLQEQ LATTKQLQEE LAEHQVPVEK LQKVARDIME IEGEPAPDHR
  4081  HVQETTDSIL SHFQSLSYSL AERSSLLQKA IAQSQSVQES LESLLQSIGE VEQNLEGKQV
  4141  SSLSSGVIQE ALATNMKLKQ DIARQKSSLE ATREMVTRFM ETADSTTAAV LQGKLAEVSQ
  4201  RFEQLCLQQQ EKESSLKKLL PQAEMFEHLS GKLQQFMENK SRMLASGNQP DQDITHFFQQ
  4261  IQELNLEMED QQENLDTLEH LVTELSSCGF ALDLCQHQDR VQNLRKDFTE LQKTVKEREK
  4321  DASSCQEQLD EFRKLVRTFQ KWLKETEGSI PPTETSMSAK ELEKQIEHLK SLLDDWASKG
  4381  TLVEEINCKG TSLENLIMEI TAPDSQGKTG SILPSVGSSV GSVNGYHTCK DLTEIQCDMS
  4441  DVNLKYEKLG GVLHERQESL QAILNRMEEV HKEANSVLQW LESKEEVLKS MDAMSSPTKT
  4501  ETVKAQAESN KAFLAELEQN SPKIQKVKEA LAGLLVTYPN SQEAENWKKI QEELNSRWER
  4561  ATEVTVARQR QLEESASHLA CFQAAESQLR PWLMEKELMM GVLGPLSIDP NMLNAQKQQV
  4621  QFMLKEFEAR RQQHEQLNEA AQGILTGPGD VSLSTSQVQK ELQSINQKWV ELTDKLNSRS
  4681  SQIDQAIVKS TQYQELLQDL SEKVRAVGQR LSVQSAISTQ PEAVKQQLEE TSEIRSDLEQ
  4741  LDHEVKEAQT LCDELSVLIG EQYLKDELKK RLETVALPLQ GLEDLAADRI NRLQAALAST
  4801  QQFQQMFDEL RTWLDDKQSQ QAKNCPISAK LERLQSQLQE NEEFQKSLNQ HSGSYEVIVA
  4861  EGESLLLSVP PGEEKRTLQN QLVELKNHWE ELSKKTADRQ SRLKDCMQKA QKYQWHVEDL
  4921  VPWIEDCKAK MSELRVTLDP VQLESSLLRS KAMLNEVEKR RSLLEILNSA ADILINSSEA
  4981  DEDGIRDEKA GINQNMDAVT EELQAKTGSL EEMTQRLREF QESFKNIEKK VEGAKHQLEI
  5041  FDALGSQACS NKNLEKLRAQ QEVLQALEPQ VDYLRNFTQG LVEDAPDGSD ASQLLHQAEV
  5101  AQQEFLEVKQ RVNSGCVMME NKLEGIGQFH CRVREMFSQL ADLDDELDGM GAIGRDTDSL
  5161  QSQIEDVRLF LNKIHVLKLD IEASEAECRH MLEEEGTLDL LGLKRELEAL NKQCGKLTER
  5221  GKARQEQLEL TLGRVEDFYR KLKGLNDATT AAEEAEALQW VVGTEVEIIN QQLADFKMFQ
  5281  KEQVDPLQMK LQQVNGLGQG LIQSAGKDCD VQGLEHDMEE INARWNTLNK KVAQRIAQLQ
  5341  EALLHCGKFQ DALEPLLSWL ADTEELIANQ KPPSAEYKVV KAQIQEQKLL QRLLDDRKAT
  5401  VDMLQAEGGR IAQSAELADR EKITGQLESL ESRWTELLSK AAARQKQLED ILVLAKQFHE
  5461  TAEPISDFLS VTEKKLANSE PVGTQTAKIQ QQIIRHKALN EEIVNRKKNV DQAIKNGQAL
  5521  LKQTTGEEVL LIQEKLDGIK TRYADITVTS SKALRTLEQA RQLATKFQST YEELTGWLRE
  5581  VEEELATSGG QSPTGEQIPQ FQQRQKELKK EVMEHRLVLD TVNEVSRALL ELVPWRAREG
  5641  LDKLVSDANE QYKLVSDTIG QRVDEIDAAI QRSQQYEQAA DAELAWVAET KRKLMALGPI
  5701  RLEQDQTTAQ LQVQKAFSID IIRHKDSMDE LFSHRSEIFG TCGEEQKTVL QEKTESLIQQ
  5761  YEAISLLNSE RYARLERAQV LVNQFWETYE ELSPWIEETR ALIAQLPSPA IDHEQLRQQQ
  5821  EEMRQLRESI AEHKPHIDKL LKIGPQLKEL NPEEGEMVEE KYQKAENMYA QIKEEVRQRA
  5881  LALDEAVSQS TQITEFHDKI EPMLETLENL SSRLRMPPLI PAEVDKIREC ISDNKSATVE
  5941  LEKLQPSFEA LKRRGEELIG RSQGADKDLA AKEIQDKLDQ MVFFWEDIKA RAEEREIKFL
  6001  DVLELAEKFW YDMAALLTTI KDTQDIVHDL ESPGIDPSII KQQVEAAETI KEETDGLHEE
  6061  LEFIRILGAD LIFACGETEK PEVRKSIDEM NNAWENLNKT WKERLEKLED AMQAAVQYQD
  6121  TLQAMFDWLD NTVIKLCTMP PVGTDLNTVK DQLNEMKEFK VEVYQQQIEM EKLNHQGELM
  6181  LKKATDETDR DIIREPLTEL KHLWENLGEK IAHRQHKLEG ALLALGQFQH ALEELMSWLT
  6241  HTEELLDAQR PISGDPKVIE VELAKHHVLK NDVLAHQATV ETVNKAGNEL LESSAGDDAS
  6301  SLRSRLEAMN QCWESVLQKT EEREQQLQST LQQAQGFHSE IEDFLLELTR MESQLSASKP
  6361  TGGLPETARE QLDTHMELYS QLKAKEETYN QLLDKGRLML LSRDDSGSGS KTEQSVALLE
  6421  QKWHVVSSKM EERKSKLEEA LNLATEFQNS LQEFINWLTL AEQSLNIASP PSLILNTVLS
  6481  QIEEHKVFAN EVNAHRDQII ELDQTGNQLK FLSQKQDVVL IKNLLVSVQS RWEKVVQRSI
  6541  ERGRSLDDAR KRAKQFHEAW KKLIDWLEDA ESHLDSELEI SNDPDKIKLQ LSKHKEFQKT
  6601  LGGKQPVYDT TIRTGRALKE KTLLPEDSQK LDNFLGEVRD KWDTVCGKSV ERQHKLEEAL
  6661  LFSGQFMDAL QALVDWLYKV EPQLAEDQPV HGDLDLVMNL MDAHKVFQKE LGKRTGTVQV
  6721  LKRSGRELIE NSRDDTTWVK GQLQELSTRW DTVCKLSVSK QSRLEQALKQ AEVFRDTVHM
  6781  LLEWLSEAEQ TLRFRGALPD DTEALQSLID THKEFMKKVE EKRVDVNSAV AMGEVILAVC
  6841  HPDCITTIKH WITIIRARFE EVLTWAKQHQ QRLETALSEL VANAELLEEL LAWIQWAETT
  6901  LIQRDQEPIP QNIDRVKALI AEHQTFMEEM TRKQPDVDRV TKTYKRKNIE PTHAPFIEKS
  6961  RSGGRKSLSQ PTPPPMPILS QSEAKNPRIN QLSARWQQVW LLALERQRKL NDALDRLEEL
  7021  KEFANFDFDV WRKKYMRWMN HKKSRVMDFF RRIDKDQDGK ITRQEFIDGI LASKFPTTKL
  7081  EMTAVADIFD RDGDGYIDYY EFVAALHPNK DAYRPTTDAD KIEDEVTRQV AQCKCAKRFQ
  7141  VEQIGENKYR FGDSQQLRLV RILRSTVMVR VGGGWMALDE FLVKNDPCRA RGRTNIELRE
  7201  KFILPEGASQ GMTPFRSRGR RSKPSSRAAS PTRSSSSASQ SNHSCTSMPS SPATPASGTK
  7261  VIPSSGSKLK RPTPTFHSSR TSLAGDTSNS SSPASTGAKT NRADPKKSAS RPGSRAGSRA
  7321  GSRASSRRGS DASDFDLLET QSACSDTSES SAAGGQGNSR RGLNKPSKIP TMSKKTTTAS
  7381  PRTPGPKR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MACF1 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: 94 nTPM

Expression across tissuesHPA

Tissue

colon: 94 nTPM
midbrain: 90 nTPM
basal ganglia: 88 nTPM
parathyroid gland: 86 nTPM
amygdala: 85 nTPM
heart muscle: 84 nTPM

Single-cell type

ocular epithelial cells: 2,163 nCPM
astrocytes: 1,735 nCPM
podocytes: 1,415 nCPM
basal keratinocytes: 1,164 nCPM
suprabasal keratinocytes: 1,159 nCPM
cone photoreceptor cells: 1,132 nCPM

Immune cell

gdT-cell: 7.6 nTPM
memory CD8 T-cell: 6 nTPM
basophil: 5.9 nTPM
NK-cell: 5 nTPM
naive CD8 T-cell: 3.8 nTPM
memory CD4 T-cell: 3.4 nTPM

Brain region

basal ganglia: 295 nTPM
medulla oblongata: 289 nTPM
thalamus: 285 nTPM
pons: 266 nTPM
midbrain: 265 nTPM
white matter: 254 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MACF1.

Disease | AllUniProt

Conditions MACF1 is implicated in, by any mechanism.

Lissencephaly 9 with complex brainstem malformation (LIS9) MIM:618325

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 2,040 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lissencephaly 9 with complex brainstem malformation
Lissencephaly with decussation defect
lissencephaly with brainstem hypoplasia
Lissencephaly
Short stature

Disease | ImmuneIEDB

Conditions an epitope on MACF1 was assayed in.

type 1 diabetes mellitus T cell

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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 3.43
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 MACF1 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 MACF1 as an antibody target. Whether an autoantibody or antibody against MACF1 could matter depends on whether native MACF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MACF1 is annotated at the cell surface, where native MACF1 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 MACF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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