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Protein

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

Gene

MACF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Isoform 2 is a F-actin-binding protein which may play a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane. Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics. May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4. Plays a key role in wound healing and epidermal cell migration. Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate MT dynamics and polarize hair follicle stem cells (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi7054 – 70651PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi7090 – 71012PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • actin filament binding Source: UniProtKB
  • ATPase activity Source: UniProtKB
  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • calcium ion binding Source: InterPro
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • Golgi to plasma membrane protein transport Source: UniProtKB
  • positive regulation of axon extension Source: UniProtKB
  • positive regulation of Wnt signaling pathway Source: UniProtKB
  • regulation of epithelial cell migration Source: UniProtKB
  • regulation of focal adhesion assembly Source: UniProtKB
  • regulation of microtubule-based process Source: UniProtKB
  • Wnt signaling pathway Source: UniProtKB-KW
  • wound healing Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Wnt signaling pathway

Keywords - Ligandi

Actin-binding, Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127603-MONOMER.
ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.
SignaLinkiQ9UPN3.
SIGNORiQ9UPN3.

Names & Taxonomyi

Protein namesi
Recommended name:
Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5
Alternative name(s):
620 kDa actin-binding protein
Short name:
ABP620
Actin cross-linking family protein 7
Macrophin-1
Trabeculin-alpha
Gene namesi
Name:MACF1
Synonyms:ABP620, ACF7, KIAA0465, KIAA1251
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:13664. MACF1.

Subcellular locationi

Isoform 2 :
Isoform 1 :

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • microtubule Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • ruffle membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane, Microtubule

Pathology & Biotechi

Organism-specific databases

DisGeNETi23499.
OpenTargetsiENSG00000127603.
PharmGKBiPA30518.

Polymorphism and mutation databases

BioMutaiMACF1.
DMDMi338817989.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000734491 – 7388Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5Add BLAST7388

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei4PhosphoserineBy similarity1
Modified residuei35PhosphoserineBy similarity1
Modified residuei57PhosphoserineBy similarity1
Modified residuei280PhosphoserineCombined sources1
Modified residuei814PhosphoserineCombined sources1
Modified residuei1122PhosphoserineCombined sources1
Modified residuei1367PhosphoserineCombined sources1
Modified residuei1376PhosphoserineCombined sources1
Modified residuei2006PhosphoserineCombined sources1
Modified residuei2051PhosphoserineCombined sources1
Modified residuei2077PhosphoserineBy similarity1
Modified residuei3122PhosphoserineBy similarity1
Modified residuei3331PhosphoserineCombined sources1
Modified residuei3927PhosphoserineCombined sources1
Modified residuei4495PhosphoserineCombined sources1
Modified residuei4496PhosphoserineCombined sources1
Modified residuei4521PhosphoserineCombined sources1
Modified residuei4836PhosphoserineCombined sources1
Modified residuei4962PhosphoserineCombined sources1
Modified residuei5435PhosphothreonineBy similarity1
Modified residuei5808PhosphoserineCombined sources1
Modified residuei6032PhosphoserineCombined sources1
Modified residuei6210N6-acetyllysineCombined sources1
Modified residuei6967PhosphoserineCombined sources1
Modified residuei7254PhosphothreonineCombined sources1
Modified residuei7279PhosphoserineCombined sources1
Modified residuei7292PhosphoserineCombined sources1
Modified residuei7330PhosphoserineCombined sources1
Modified residuei7333PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated on serine residues in the C-terminal tail by GSK3B. Phosphorylation inhibits microtubule-binding and this plays a critical role in bulge stem cell migration and skin wound repair. Wnt-signaling can repress phosphorylation (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UPN3.
PaxDbiQ9UPN3.
PeptideAtlasiQ9UPN3.
PRIDEiQ9UPN3.

PTM databases

iPTMnetiQ9UPN3.
PhosphoSitePlusiQ9UPN3.
SwissPalmiQ9UPN3.

Expressioni

Tissue specificityi

Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in cell lines NCI-H460, A-549 and HaCaT. Isoform 4 is expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas or skeletal muscle.2 Publications

Gene expression databases

BgeeiENSG00000127603.
CleanExiHS_MACF1.
ExpressionAtlasiQ9UPN3. baseline and differential.
GenevisibleiQ9UPN3. HS.

Organism-specific databases

HPAiHPA013713.

Interactioni

Subunit structurei

Isoform 2 interacts with MAPRE1, CLASP1, CLASP2, AXIN1 and LRP6 (By similarity). Isoform 2 is found in a complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Isoform 2 interacts with GOLGA4.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DISC1Q9NRI55EBI-522925,EBI-529989

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • actin filament binding Source: UniProtKB
  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL

Protein-protein interaction databases

BioGridi117048. 65 interactors.
DIPiDIP-50616N.
IntActiQ9UPN3. 28 interactors.
MINTiMINT-1195815.
STRINGi9606.ENSP00000354573.

Structurei

Secondary structure

17388
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi75 – 93Combined sources19
Turni94 – 96Combined sources3
Turni102 – 108Combined sources7
Helixi110 – 120Combined sources11
Helixi132 – 148Combined sources17
Helixi158 – 162Combined sources5
Helixi166 – 180Combined sources15
Turni181 – 183Combined sources3
Helixi196 – 208Combined sources13
Beta strandi211 – 213Combined sources3
Helixi221 – 223Combined sources3
Helixi227 – 236Combined sources10
Helixi243 – 246Combined sources4
Helixi251 – 264Combined sources14
Helixi273 – 276Combined sources4
Beta strandi277 – 280Combined sources4
Helixi283 – 296Combined sources14
Beta strandi302 – 305Combined sources4
Turni309 – 311Combined sources3
Helixi312 – 332Combined sources21
Helixi335 – 337Combined sources3
Helixi358 – 361Combined sources4
Helixi363 – 386Combined sources24
Helixi398 – 418Combined sources21

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4Z6GX-ray2.65A74-421[»]
ProteinModelPortaliQ9UPN3.
SMRiQ9UPN3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 295Actin-bindingAdd BLAST295
Domaini78 – 181CH 1PROSITE-ProRule annotationAdd BLAST104
Repeati148 – 171LRR 1Add BLAST24
Domaini194 – 295CH 2PROSITE-ProRule annotationAdd BLAST102
Repeati240 – 264LRR 2Add BLAST25
Repeati377 – 399LRR 3Add BLAST23
Repeati441 – 464LRR 4Add BLAST24
Domaini871 – 923SH3Add BLAST53
Repeati1050 – 1073LRR 5Add BLAST24
Repeati1128 – 1154LRR 6Add BLAST27
Repeati1187 – 1210LRR 7Add BLAST24
Repeati1257 – 1282LRR 8Add BLAST26
Repeati1577 – 1621Plectin 1Add BLAST45
Repeati1654 – 1696Plectin 2Add BLAST43
Repeati1769 – 1809Plectin 3Add BLAST41
Repeati1811 – 1848Plectin 4Add BLAST38
Repeati1855 – 1886Plectin 5Add BLAST32
Repeati2290 – 2332Plectin 6Add BLAST43
Repeati2367 – 2410Plectin 7Add BLAST44
Repeati2411 – 2437Plectin 8Add BLAST27
Repeati2501 – 2543Plectin 9Add BLAST43
Repeati2581 – 2612Plectin 10Add BLAST32
Repeati2686 – 2730Plectin 11Add BLAST45
Repeati3239 – 3262LRR 9Add BLAST24
Repeati3264 – 3283LRR 10Add BLAST20
Repeati3646 – 3669LRR 11Add BLAST24
Repeati3696 – 3720LRR 12Add BLAST25
Repeati3883 – 3957Spectrin 1Add BLAST75
Repeati3936 – 3958LRR 13Add BLAST23
Repeati4000 – 4108Spectrin 2Add BLAST109
Repeati4125 – 4150LRR 14Add BLAST26
Repeati4261 – 4287LRR 15Add BLAST27
Repeati4466 – 4574Spectrin 3Add BLAST109
Repeati4511 – 4534LRR 16Add BLAST24
Repeati4601 – 4624LRR 17Add BLAST24
Repeati4769 – 4792LRR 18Add BLAST24
Repeati4800 – 4904Spectrin 4Add BLAST105
Repeati4909 – 5012Spectrin 5Add BLAST104
Repeati5051 – 5076LRR 19Add BLAST26
Repeati5172 – 5194LRR 20Add BLAST23
Repeati5236 – 5341Spectrin 6Add BLAST106
Repeati5281 – 5304LRR 21Add BLAST24
Repeati5348 – 5450Spectrin 7Add BLAST103
Repeati5455 – 5557Spectrin 8Add BLAST103
Repeati5695 – 5719LRR 22Add BLAST25
Repeati5783 – 5885Spectrin 9Add BLAST103
Repeati5804 – 5828LRR 23Add BLAST25
Repeati6005 – 6110Spectrin 10Add BLAST106
Repeati6115 – 6219Spectrin 11Add BLAST105
Repeati6225 – 6328Spectrin 12Add BLAST104
Repeati6333 – 6439Spectrin 13Add BLAST107
Repeati6443 – 6547Spectrin 14Add BLAST105
Repeati6496 – 6519LRR 24Add BLAST24
Repeati6552 – 6658Spectrin 15Add BLAST107
Repeati6665 – 6766Spectrin 16Add BLAST102
Repeati6771 – 6874Spectrin 17Add BLAST104
Domaini7041 – 7076EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini7077 – 7112EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini7117 – 7189GARPROSITE-ProRule annotationAdd BLAST73

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni7117 – 7388C-terminal tailBy similarityAdd BLAST272
Regioni7313 – 73284 X 4 AA tandem repeats of [GS]-S-R-[AR]Add BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi698 – 703Poly-Glu6
Compositional biasi1122 – 1127Poly-Ser6
Compositional biasi1414 – 1417Poly-Glu4
Compositional biasi1986 – 1989Poly-Leu4
Compositional biasi7222 – 7351Ser-richAdd BLAST130

Domaini

The C-terminal tail is required for phosphorylation by GSK3B and for microtubule-binding.By similarity

Sequence similaritiesi

Belongs to the plakin or cytolinker family.Curated
Contains 1 actin-binding domain.Curated
Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation
Contains 2 EF-hand domains.PROSITE-ProRule annotation
Contains 1 GAR domain.PROSITE-ProRule annotation
Contains 24 LRR (leucine-rich) repeats.Curated
Contains 11 plectin repeats.Curated
Contains 1 SH3 domain.Curated
Contains 17 spectrin repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000119163.
HOGENOMiHOG000049054.
HOVERGENiHBG031127.
InParanoidiQ9UPN3.
KOiK19827.
PhylomeDBiQ9UPN3.
TreeFamiTF335163.

Family and domain databases

CDDicd00014. CH. 2 hits.
cd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
1.10.418.10. 2 hits.
3.30.920.20. 1 hit.
3.90.1290.10. 5 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003108. GAS_dom.
IPR028408. Macf1.
IPR001101. Plectin_repeat.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view]
PANTHERiPTHR11915:SF37. PTHR11915:SF37. 6 hits.
PfamiPF00307. CH. 2 hits.
PF13499. EF-hand_7. 1 hit.
PF02187. GAS2. 1 hit.
PF00681. Plectin. 9 hits.
PF00435. Spectrin. 17 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM00054. EFh. 2 hits.
SM00243. GAS2. 1 hit.
SM00250. PLEC. 20 hits.
SM00150. SPEC. 33 hits.
[Graphical view]
SUPFAMiSSF143575. SSF143575. 1 hit.
SSF47473. SSF47473. 1 hit.
SSF47576. SSF47576. 1 hit.
SSF75399. SSF75399. 6 hits.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
PS51460. GAR. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UPN3-1) [UniParc]FASTAAdd to basket
Also known as: Macf1b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSSDEETLS ERSCRSERSC RSERSYRSER SGSLSPCPPG DTLPWNLPLH
60 70 80 90 100
EQKKRKSQDS VLDPAERAVV RVADERDRVQ KKTFTKWVNK HLMKVRKHIN
110 120 130 140 150
DLYEDLRDGH NLISLLEVLS GIKLPREKGR MRFHRLQNVQ IALDFLKQRQ
160 170 180 190 200
VKLVNIRNDD ITDGNPKLTL GLIWTIILHF QISDIYISGE SGDMSAKEKL
210 220 230 240 250
LLWTQKVTAG YTGIKCTNFS SCWSDGKMFN ALIHRYRPDL VDMERVQIQS
260 270 280 290 300
NRENLEQAFE VAERLGVTRL LDAEDVDVPS PDEKSVITYV SSIYDAFPKV
310 320 330 340 350
PEGGEGISAT EVDSRWQEYQ SRVDSLIPWI KQHTILMSDK TFPQNPVELK
360 370 380 390 400
ALYNQYIHFK ETEILAKERE KGRIEELYKL LEVWIEFGRI KLPQGYHPND
410 420 430 440 450
VEEEWGKLII EMLEREKSLR PAVERLELLL QIANKIQNGA LNCEEKLTLA
460 470 480 490 500
KNTLQADAAH LESGQPVQCE SDVIMYIQEC EGLIRQLQVD LQILRDENYY
510 520 530 540 550
QLEELAFRVM RLQDELVTLR LECTNLYRKG HFTSLELVPP STLTTTHLKA
560 570 580 590 600
EPLTKATHSS STSWFRKPMT RAELVAISSS EDEGNLRFVY ELLSWVEEMQ
610 620 630 640 650
MKLERAEWGN DLPSVELQLE TQQHIHTSVE ELGSSVKEAR LYEGKMSQNF
660 670 680 690 700
HTSYAETLGK LETQYCKLKE TSSFRMRHLQ SLHKFVSRAT AELIWLNEKE
710 720 730 740 750
EEELAYDWSD NNSNISAKRN YFSELTMELE EKQDVFRSLQ DTAELLSLEN
760 770 780 790 800
HPAKQTVEAY SAAVQSQLQW MKQLCLCVEQ HVKENTAYFQ FFSDARELES
810 820 830 840 850
FLRNLQDSIK RKYSCDHNTS LSRLEDLLQD SMDEKEQLIQ SKSSVASLVG
860 870 880 890 900
RSKTIVQLKP RSPDHVLKNT ISVKAVCDYR QIEITICKND ECVLEDNSQR
910 920 930 940 950
TKWKVISPTG NEAMVPSVCF LIPPPNKDAI EMASRVEQSY QKVMALWHQL
960 970 980 990 1000
HVNTKSLISW NYLRKDLDLV QTWNLEKLRS SAPGECHQIM KNLQAHYEDF
1010 1020 1030 1040 1050
LQDSRDSVLF SVADRLRLEE EVEACKARFQ HLMKSMENED KEETVAKMYI
1060 1070 1080 1090 1100
SELKNIRLRL EEYEQRVVKR IQSLASSRTD RDAWQDNALR IAEQEHTQED
1110 1120 1130 1140 1150
LQQLRSDLDA VSMKCDSFLH QSPSSSSVPT LRSELNLLVE KMDHVYGLST
1160 1170 1180 1190 1200
VYLNKLKTVD VIVRSIQDAE LLVKGYEIKL SQEEVVLADL SALEAHWSTL
1210 1220 1230 1240 1250
RHWLSDVKDK NSVFSVLDEE IAKAKVVAEQ MSRLTPERNL DLERYQEKGS
1260 1270 1280 1290 1300
QLQERWHRVI AQLEIRQSEL ESIQEVLGDY RACHGTLIKW IEETTAQQEM
1310 1320 1330 1340 1350
MKPGQAEDSR VLSEQLSQQT ALFAEIERNQ TKLDQCQKFS QQYSTIVKDY
1360 1370 1380 1390 1400
ELQLMTYKAF VESQQKSPGK RRRMLSSSDA ITQEFMDLRT RYTALVTLTT
1410 1420 1430 1440 1450
QHVKYISDAL RRLEEEEKVV EEEKQEHVEK VKELLGWVST LARNTQGKAT
1460 1470 1480 1490 1500
SSETKESTDI EKAILEQQVL SEELTTKKEQ VSEAIKTSQI FLAKHGHKLS
1510 1520 1530 1540 1550
EKEKKQISEQ LNALNKAYHD LCDGSANQLQ QLQSQLAHQT EQKECRAVAG
1560 1570 1580 1590 1600
VIDLGTVEIF PIFKAMQKGL LDQDTGLVLL ESQVIMSGLI APETGENLSL
1610 1620 1630 1640 1650
EEGIARNLIN PQMYQQLREL QDALALISRL TESRGPLSVV EAIEKRIISE
1660 1670 1680 1690 1700
TVGLKILEAH LATGGFSLSP SENCINLEEA FHQGLISAWL HSVLESYLRT
1710 1720 1730 1740 1750
SKNLIDPNTA EKIGLLDLMQ RCIVHQESGF KLLPVKQLAG GMVSLKSGRK
1760 1770 1780 1790 1800
VSIFRAVQEG LIDRQVTVRL LEAQLFAGGI VDPRTGHRLT VEEAVRHNLI
1810 1820 1830 1840 1850
DQDMACAILI RQLQTGGIID TVTGQRLTID EAVSNDLVAA KIALVILESL
1860 1870 1880 1890 1900
WSFMGLLWPE SGEILPITDA LEQGIVSTEL AHKILSNRQH IKALFLPATT
1910 1920 1930 1940 1950
EILSWKKAIE SGILDRDLAN NLKSICIPDV MPHMQLADSA EQNINPGAAV
1960 1970 1980 1990 2000
LPCSKSHPKA TASQSENLLF QLMTHSYINV QNGQRLLLLD KELMETLTSR
2010 2020 2030 2040 2050
DEYQTSPPKV VEIGHQRQKT PEGLQESANV KISGTFSSGW TVRLPEFQFS
2060 2070 2080 2090 2100
SQNKEYPDRE DCTTEKGKKT TVETEDSSVE NPEQDLFVEQ KERNPNIDAL
2110 2120 2130 2140 2150
KVINKVKLEV QRQLIGTQRE DQTAVSVREN ASRGHLLTIP PAEAEGVPLV
2160 2170 2180 2190 2200
VDKDVFSVET PKKEHQPLRN TSFTCQNEQA HTLETEYIHD ETGGSHIKPQ
2210 2220 2230 2240 2250
SKKLQVQVKK TLGIKLELKS ETDGNVHPLD KKEMLKKTFL AKDDHKESQE
2260 2270 2280 2290 2300
AQNIAGGSMM MSEKTDEEDS GREIFLSCSH PLELLEEATL NVLSAQLLDG
2310 2320 2330 2340 2350
GIFHEQTGQK LLLNEAISRG IVPSHTAVKL MEKLNMFQGF FDSQTCESLT
2360 2370 2380 2390 2400
TEEVINEGLM DEKLLHNVLM ADKAISGVLD PRTQTLCSVK DAVTVGLLDK
2410 2420 2430 2440 2450
ETATRILERQ VVTGGIIDLK RGKKVSVTLA STLGLVDVAD QPELINLEKA
2460 2470 2480 2490 2500
SKGRDAEKTV RERLISLQME TTGLIDPDSK APLTVVQSID RGLLEREEAV
2510 2520 2530 2540 2550
RLLTKQVVDG GIIHHISGMR LSVDNAFRHG LIGEDLAEKL KRVENLNIHQ
2560 2570 2580 2590 2600
IFNPETKENI SLPKAIKLDL ITSDLKREIQ EVQAFTGNFV DLISGQRLTL
2610 2620 2630 2640 2650
AEAKKEGLLT NEAVLSPGMM HGIVDPENCR IVPYSELVKK CKIDIESGQR
2660 2670 2680 2690 2700
YLEVIPFSDI KDGVSDKVLT LSQAIQLGKV DFASTLKVLE AQANTGGIID
2710 2720 2730 2740 2750
TATGKRLTLA SALEEKLVDE NMVRIIASHQ VLNGGIVDIF SDQRVTLVEA
2760 2770 2780 2790 2800
IEKRLISPEL ANMIQIDSSE FSDHRAQIEK QEGIEVCALQ NEFLGKDMLI
2810 2820 2830 2840 2850
ACNQTAEMSC NKVEESERLF QVENQSAQEK VKVRVSDGEQ AKKSREISLK
2860 2870 2880 2890 2900
EFGCKDQRKP RMSSDAKEFI SIINPHNLKG KSLGQVSLTH PYSECDFKLK
2910 2920 2930 2940 2950
EVARNNMGND TNEEQEKAVT KIEIISHMKQ STSCLDSEEI RENQGEVILE
2960 2970 2980 2990 3000
VQETYCETSG KLPSEQVLQQ PMNARVKSKR EKREVIVEES IRTCKPAFLS
3010 3020 3030 3040 3050
EEKLYQETAI RDEHDSHIKS QPREMTSSEK GKEADTEMGF SITFKIEESS
3060 3070 3080 3090 3100
SQVVPQGISV KHLDALTLFS SKQANEGKVN NLSLCLTLKP EENLSREIAC
3110 3120 3130 3140 3150
GAQSEPFPCM TPRPEGLHYQ ESDGKAQVTG PSQISKTDKS FQGTTRQETN
3160 3170 3180 3190 3200
YQDSWVTSKT KETKHQISSS NECKEKSYQE VSFDPARGLK LEEITVSRPD
3210 3220 3230 3240 3250
SKEVRYLEFS DRKDLHHQGS KSDDKLCGTL KSEIATQELT GEKFLEMANP
3260 3270 3280 3290 3300
NVAGLEAGSI EDIVTQRGSR VLGSFLPEKL FKGVSQKENT GQQNAIISPT
3310 3320 3330 3340 3350
VLETSEEKTV SLTVCSAVKT EKTPQEKLRE SPGSEQTPFM TAPEGKGNGG
3360 3370 3380 3390 3400
VNPEPFRATQ NVFTRQLCLE HDEKLVSYLS LLRNIEMRTK QIQPLELNLA
3410 3420 3430 3440 3450
ELQDLLCQAK VLERELKDLT TLVSQELECV NQIIISQPQE VPAQLLKALE
3460 3470 3480 3490 3500
KDAKNLQKSL SSVSDTWNSR LLHFQNAVEI EKTKVLNQHT QLEGRLQDLR
3510 3520 3530 3540 3550
AWVGNKNLIL NSKGSNSEID VDSLNLCLQQ YEDLKQPMAE RKAQLDALAF
3560 3570 3580 3590 3600
DIQFFISEHA QDLSPQQNRQ MLRLLNELQR SFQDILEQTA AQVDALQGHL
3610 3620 3630 3640 3650
QQMEQEALVK TLQKQQNTCH QQLEDLCSWV GQAERALAGH QGRTTQQDLS
3660 3670 3680 3690 3700
ALQKNQSDLK DLQDDIQNRA TSFATVVKDI EGFMEENQTK LSPRELTALR
3710 3720 3730 3740 3750
EKLHQAKEQY EALQEETRVA QKELEEAVTS ALQQETEKSK AAKELAENKK
3760 3770 3780 3790 3800
KIDALLDWVT SVGSSGGQLL TNLPGMEQLS GASLEKGALD TTDGYMGVNQ
3810 3820 3830 3840 3850
APEKLDKQCE MMKARHQELL SQQQNFILAT QSAQAFLDQH GHNLTPEEQQ
3860 3870 3880 3890 3900
MLQQKLGELK EQYSTSLAQS EAELKQVQTL QDELQKFLQD HKEFESWLER
3910 3920 3930 3940 3950
SEKELENMHK GGSSPETLPS LLKRQGSFSE DVISHKGDLR FVTISGQKVL
3960 3970 3980 3990 4000
DMENSFKEGK EPSEIGNLVK DKLKDATERY TALHSKCTRL GSHLNMLLGQ
4010 4020 4030 4040 4050
YHQFQNSADS LQAWMQACEA NVEKLLSDTV ASDPGVLQEQ LATTKQLQEE
4060 4070 4080 4090 4100
LAEHQVPVEK LQKVARDIME IEGEPAPDHR HVQETTDSIL SHFQSLSYSL
4110 4120 4130 4140 4150
AERSSLLQKA IAQSQSVQES LESLLQSIGE VEQNLEGKQV SSLSSGVIQE
4160 4170 4180 4190 4200
ALATNMKLKQ DIARQKSSLE ATREMVTRFM ETADSTTAAV LQGKLAEVSQ
4210 4220 4230 4240 4250
RFEQLCLQQQ EKESSLKKLL PQAEMFEHLS GKLQQFMENK SRMLASGNQP
4260 4270 4280 4290 4300
DQDITHFFQQ IQELNLEMED QQENLDTLEH LVTELSSCGF ALDLCQHQDR
4310 4320 4330 4340 4350
VQNLRKDFTE LQKTVKEREK DASSCQEQLD EFRKLVRTFQ KWLKETEGSI
4360 4370 4380 4390 4400
PPTETSMSAK ELEKQIEHLK SLLDDWASKG TLVEEINCKG TSLENLIMEI
4410 4420 4430 4440 4450
TAPDSQGKTG SILPSVGSSV GSVNGYHTCK DLTEIQCDMS DVNLKYEKLG
4460 4470 4480 4490 4500
GVLHERQESL QAILNRMEEV HKEANSVLQW LESKEEVLKS MDAMSSPTKT
4510 4520 4530 4540 4550
ETVKAQAESN KAFLAELEQN SPKIQKVKEA LAGLLVTYPN SQEAENWKKI
4560 4570 4580 4590 4600
QEELNSRWER ATEVTVARQR QLEESASHLA CFQAAESQLR PWLMEKELMM
4610 4620 4630 4640 4650
GVLGPLSIDP NMLNAQKQQV QFMLKEFEAR RQQHEQLNEA AQGILTGPGD
4660 4670 4680 4690 4700
VSLSTSQVQK ELQSINQKWV ELTDKLNSRS SQIDQAIVKS TQYQELLQDL
4710 4720 4730 4740 4750
SEKVRAVGQR LSVQSAISTQ PEAVKQQLEE TSEIRSDLEQ LDHEVKEAQT
4760 4770 4780 4790 4800
LCDELSVLIG EQYLKDELKK RLETVALPLQ GLEDLAADRI NRLQAALAST
4810 4820 4830 4840 4850
QQFQQMFDEL RTWLDDKQSQ QAKNCPISAK LERLQSQLQE NEEFQKSLNQ
4860 4870 4880 4890 4900
HSGSYEVIVA EGESLLLSVP PGEEKRTLQN QLVELKNHWE ELSKKTADRQ
4910 4920 4930 4940 4950
SRLKDCMQKA QKYQWHVEDL VPWIEDCKAK MSELRVTLDP VQLESSLLRS
4960 4970 4980 4990 5000
KAMLNEVEKR RSLLEILNSA ADILINSSEA DEDGIRDEKA GINQNMDAVT
5010 5020 5030 5040 5050
EELQAKTGSL EEMTQRLREF QESFKNIEKK VEGAKHQLEI FDALGSQACS
5060 5070 5080 5090 5100
NKNLEKLRAQ QEVLQALEPQ VDYLRNFTQG LVEDAPDGSD ASQLLHQAEV
5110 5120 5130 5140 5150
AQQEFLEVKQ RVNSGCVMME NKLEGIGQFH CRVREMFSQL ADLDDELDGM
5160 5170 5180 5190 5200
GAIGRDTDSL QSQIEDVRLF LNKIHVLKLD IEASEAECRH MLEEEGTLDL
5210 5220 5230 5240 5250
LGLKRELEAL NKQCGKLTER GKARQEQLEL TLGRVEDFYR KLKGLNDATT
5260 5270 5280 5290 5300
AAEEAEALQW VVGTEVEIIN QQLADFKMFQ KEQVDPLQMK LQQVNGLGQG
5310 5320 5330 5340 5350
LIQSAGKDCD VQGLEHDMEE INARWNTLNK KVAQRIAQLQ EALLHCGKFQ
5360 5370 5380 5390 5400
DALEPLLSWL ADTEELIANQ KPPSAEYKVV KAQIQEQKLL QRLLDDRKAT
5410 5420 5430 5440 5450
VDMLQAEGGR IAQSAELADR EKITGQLESL ESRWTELLSK AAARQKQLED
5460 5470 5480 5490 5500
ILVLAKQFHE TAEPISDFLS VTEKKLANSE PVGTQTAKIQ QQIIRHKALN
5510 5520 5530 5540 5550
EEIVNRKKNV DQAIKNGQAL LKQTTGEEVL LIQEKLDGIK TRYADITVTS
5560 5570 5580 5590 5600
SKALRTLEQA RQLATKFQST YEELTGWLRE VEEELATSGG QSPTGEQIPQ
5610 5620 5630 5640 5650
FQQRQKELKK EVMEHRLVLD TVNEVSRALL ELVPWRAREG LDKLVSDANE
5660 5670 5680 5690 5700
QYKLVSDTIG QRVDEIDAAI QRSQQYEQAA DAELAWVAET KRKLMALGPI
5710 5720 5730 5740 5750
RLEQDQTTAQ LQVQKAFSID IIRHKDSMDE LFSHRSEIFG TCGEEQKTVL
5760 5770 5780 5790 5800
QEKTESLIQQ YEAISLLNSE RYARLERAQV LVNQFWETYE ELSPWIEETR
5810 5820 5830 5840 5850
ALIAQLPSPA IDHEQLRQQQ EEMRQLRESI AEHKPHIDKL LKIGPQLKEL
5860 5870 5880 5890 5900
NPEEGEMVEE KYQKAENMYA QIKEEVRQRA LALDEAVSQS TQITEFHDKI
5910 5920 5930 5940 5950
EPMLETLENL SSRLRMPPLI PAEVDKIREC ISDNKSATVE LEKLQPSFEA
5960 5970 5980 5990 6000
LKRRGEELIG RSQGADKDLA AKEIQDKLDQ MVFFWEDIKA RAEEREIKFL
6010 6020 6030 6040 6050
DVLELAEKFW YDMAALLTTI KDTQDIVHDL ESPGIDPSII KQQVEAAETI
6060 6070 6080 6090 6100
KEETDGLHEE LEFIRILGAD LIFACGETEK PEVRKSIDEM NNAWENLNKT
6110 6120 6130 6140 6150
WKERLEKLED AMQAAVQYQD TLQAMFDWLD NTVIKLCTMP PVGTDLNTVK
6160 6170 6180 6190 6200
DQLNEMKEFK VEVYQQQIEM EKLNHQGELM LKKATDETDR DIIREPLTEL
6210 6220 6230 6240 6250
KHLWENLGEK IAHRQHKLEG ALLALGQFQH ALEELMSWLT HTEELLDAQR
6260 6270 6280 6290 6300
PISGDPKVIE VELAKHHVLK NDVLAHQATV ETVNKAGNEL LESSAGDDAS
6310 6320 6330 6340 6350
SLRSRLEAMN QCWESVLQKT EEREQQLQST LQQAQGFHSE IEDFLLELTR
6360 6370 6380 6390 6400
MESQLSASKP TGGLPETARE QLDTHMELYS QLKAKEETYN QLLDKGRLML
6410 6420 6430 6440 6450
LSRDDSGSGS KTEQSVALLE QKWHVVSSKM EERKSKLEEA LNLATEFQNS
6460 6470 6480 6490 6500
LQEFINWLTL AEQSLNIASP PSLILNTVLS QIEEHKVFAN EVNAHRDQII
6510 6520 6530 6540 6550
ELDQTGNQLK FLSQKQDVVL IKNLLVSVQS RWEKVVQRSI ERGRSLDDAR
6560 6570 6580 6590 6600
KRAKQFHEAW KKLIDWLEDA ESHLDSELEI SNDPDKIKLQ LSKHKEFQKT
6610 6620 6630 6640 6650
LGGKQPVYDT TIRTGRALKE KTLLPEDSQK LDNFLGEVRD KWDTVCGKSV
6660 6670 6680 6690 6700
ERQHKLEEAL LFSGQFMDAL QALVDWLYKV EPQLAEDQPV HGDLDLVMNL
6710 6720 6730 6740 6750
MDAHKVFQKE LGKRTGTVQV LKRSGRELIE NSRDDTTWVK GQLQELSTRW
6760 6770 6780 6790 6800
DTVCKLSVSK QSRLEQALKQ AEVFRDTVHM LLEWLSEAEQ TLRFRGALPD
6810 6820 6830 6840 6850
DTEALQSLID THKEFMKKVE EKRVDVNSAV AMGEVILAVC HPDCITTIKH
6860 6870 6880 6890 6900
WITIIRARFE EVLTWAKQHQ QRLETALSEL VANAELLEEL LAWIQWAETT
6910 6920 6930 6940 6950
LIQRDQEPIP QNIDRVKALI AEHQTFMEEM TRKQPDVDRV TKTYKRKNIE
6960 6970 6980 6990 7000
PTHAPFIEKS RSGGRKSLSQ PTPPPMPILS QSEAKNPRIN QLSARWQQVW
7010 7020 7030 7040 7050
LLALERQRKL NDALDRLEEL KEFANFDFDV WRKKYMRWMN HKKSRVMDFF
7060 7070 7080 7090 7100
RRIDKDQDGK ITRQEFIDGI LASKFPTTKL EMTAVADIFD RDGDGYIDYY
7110 7120 7130 7140 7150
EFVAALHPNK DAYRPTTDAD KIEDEVTRQV AQCKCAKRFQ VEQIGENKYR
7160 7170 7180 7190 7200
FGDSQQLRLV RILRSTVMVR VGGGWMALDE FLVKNDPCRA RGRTNIELRE
7210 7220 7230 7240 7250
KFILPEGASQ GMTPFRSRGR RSKPSSRAAS PTRSSSSASQ SNHSCTSMPS
7260 7270 7280 7290 7300
SPATPASGTK VIPSSGSKLK RPTPTFHSSR TSLAGDTSNS SSPASTGAKT
7310 7320 7330 7340 7350
NRADPKKSAS RPGSRAGSRA GSRASSRRGS DASDFDLLET QSACSDTSES
7360 7370 7380
SAAGGQGNSR RGLNKPSKIP TMSKKTTTAS PRTPGPKR
Length:7,388
Mass (Da):838,308
Last modified:June 28, 2011 - v4
Checksum:iB044DC183C048416
GO
Isoform 2 (identifier: Q9UPN3-2) [UniParc]FASTAAdd to basket
Also known as: Macf1a

The sequence of this isoform differs from the canonical sequence as follows:
     1543-3609: Missing.
     5497-5497: K → KALEEDIENH...VLHRQHADHL

Show »
Length:5,430
Mass (Da):620,418
Checksum:i4C0CB72BDFBF9777
GO
Isoform 3 (identifier: Q9UPN3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: MSSSDEETLS...DPAERAVVRV → MFPVLWAGIP...CTSASRVAVI
     1543-3609: Missing.
     4410-4430: Missing.
     5497-5497: K → KALEEDIENH...VLHRQHADHL

Show »
Length:5,374
Mass (Da):614,153
Checksum:i503537231A91ABDA
GO
Isoform 5 (identifier: Q9UPN3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1543-3609: Missing.
     4410-4430: Missing.

Note: No experimental confirmation available.
Show »
Length:5,300
Mass (Da):606,164
Checksum:iE5364BDE41CBB545
GO
Isoform 4 (identifier: Q9UPN3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1565: Missing.
     5497-5497: K → KALEEDIENH...VLHRQHADHL
     7150-7150: R → RFFLGNQ

Show »
Length:5,938
Mass (Da):670,137
Checksum:i360611C48946A058
GO

Sequence cautioni

The sequence BAA83821 differs from that shown. Reason: Frameshift at positions 575 and 594.Curated
The sequence CAH70156 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73668 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI16417 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI21814 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1295 – 1296TA → LP in AAL39000 (PubMed:16710414).Curated2
Sequence conflicti1487T → A in BAA83821 (PubMed:10529403).Curated1
Sequence conflicti1487T → A in AAL39000 (PubMed:16710414).Curated1
Sequence conflicti3277P → S in AAL38997 (PubMed:11845288).Curated1
Sequence conflicti4030V → A in BAA83821 (PubMed:10529403).Curated1
Sequence conflicti4119E → D in BAA83821 (PubMed:10529403).Curated1
Sequence conflicti4150E → K in AAF06360 (PubMed:10559237).Curated1
Sequence conflicti4388C → Y in BAA83821 (PubMed:10529403).Curated1
Sequence conflicti4411 – 4417SILPSVG → EYRLFKI in BAA86565 (PubMed:10574462).Curated7
Sequence conflicti4590R → Q in BAA83821 (PubMed:10529403).Curated1
Sequence conflicti6791Missing in AAF06360 (PubMed:10559237).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035451302E → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0486254357M → V.1 PublicationCorresponds to variant rs2296172dbSNPEnsembl.1
Natural variantiVAR_0486266201K → R.Corresponds to variant rs682351dbSNPEnsembl.1
Natural variantiVAR_0486276308A → T.Corresponds to variant rs587404dbSNPEnsembl.1
Natural variantiVAR_0354526462E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0486286628S → T.2 PublicationsCorresponds to variant rs668556dbSNPEnsembl.1
Natural variantiVAR_0486296752T → I.Corresponds to variant rs2296174dbSNPEnsembl.1
Natural variantiVAR_0486306855I → V.Corresponds to variant rs12068423dbSNPEnsembl.1
Natural variantiVAR_0652567093G → E in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0436261 – 1565Missing in isoform 4. 1 PublicationAdd BLAST1565
Alternative sequenceiVSP_0413901 – 72MSSSD…AVVRV → MFPVLWAGIPGRDVGSLQPL PPGFKQFCTSASRVAVI in isoform 3. 1 PublicationAdd BLAST72
Alternative sequenceiVSP_0413911543 – 3609Missing in isoform 2, isoform 3 and isoform 5. 4 PublicationsAdd BLAST2067
Alternative sequenceiVSP_0413924410 – 4430Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_0413935497K → KALEEDIENHATDVHQAVKI GQSLSSLTSPAEQGVLSEKI DSLQARYSEIQDRCCRKAAL LDQALSNARLFGEDEVEVLN WLAEVEDKLSSVFVKDFKQD VLHRQHADHL in isoform 2, isoform 3 and isoform 4. 4 Publications1
Alternative sequenceiVSP_0436277150R → RFFLGNQ in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB029290 mRNA. Translation: BAA83821.1. Frameshift.
AF141968 mRNA. Translation: AAF06360.1.
AF317696 mRNA. Translation: AAL09459.1.
AF325341
, AF325333, AF325334, AF325335, AF325336, AF325339, AF325340 Genomic DNA. Translation: AAL38997.1.
AF325341
, AF325330, AF325331, AF325332, AF325333, AF325334, AF325335, AF325336, AF325339, AF325340 Genomic DNA. Translation: AAL39000.1.
AL442071
, AL137853, AL355477, AL365277 Genomic DNA. Translation: CAH73668.1. Sequence problems.
AL442071, AL137853, AL365277 Genomic DNA. Translation: CAH73671.1.
AL137853
, AL355477, AL365277, AL442071 Genomic DNA. Translation: CAI21814.1. Sequence problems.
AL137853, AL365277, AL442071 Genomic DNA. Translation: CAI21816.1.
AL365277
, AL137853, AL355477, AL442071 Genomic DNA. Translation: CAI16417.1. Sequence problems.
AL365277, AL137853, AL442071 Genomic DNA. Translation: CAI16422.1.
AL355477
, AL137853, AL365277, AL442071 Genomic DNA. Translation: CAH70156.1. Sequence problems.
AL356055 Genomic DNA. No translation available.
AB033077 mRNA. Translation: BAA86565.1.
AB007934 mRNA. Translation: BAA32310.3.
CCDSiCCDS435.1. [Q9UPN3-2]
PIRiT00079.
RefSeqiNP_036222.3. NM_012090.5. [Q9UPN3-2]
UniGeneiHs.472475.
Hs.692278.

Genome annotation databases

EnsembliENST00000289893; ENSP00000289893; ENSG00000127603. [Q9UPN3-5]
ENST00000361689; ENSP00000354573; ENSG00000127603. [Q9UPN3-2]
ENST00000372915; ENSP00000362006; ENSG00000127603. [Q9UPN3-1]
GeneIDi23499.
KEGGihsa:23499.
UCSCiuc031pmd.2. human. [Q9UPN3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB029290 mRNA. Translation: BAA83821.1. Frameshift.
AF141968 mRNA. Translation: AAF06360.1.
AF317696 mRNA. Translation: AAL09459.1.
AF325341
, AF325333, AF325334, AF325335, AF325336, AF325339, AF325340 Genomic DNA. Translation: AAL38997.1.
AF325341
, AF325330, AF325331, AF325332, AF325333, AF325334, AF325335, AF325336, AF325339, AF325340 Genomic DNA. Translation: AAL39000.1.
AL442071
, AL137853, AL355477, AL365277 Genomic DNA. Translation: CAH73668.1. Sequence problems.
AL442071, AL137853, AL365277 Genomic DNA. Translation: CAH73671.1.
AL137853
, AL355477, AL365277, AL442071 Genomic DNA. Translation: CAI21814.1. Sequence problems.
AL137853, AL365277, AL442071 Genomic DNA. Translation: CAI21816.1.
AL365277
, AL137853, AL355477, AL442071 Genomic DNA. Translation: CAI16417.1. Sequence problems.
AL365277, AL137853, AL442071 Genomic DNA. Translation: CAI16422.1.
AL355477
, AL137853, AL365277, AL442071 Genomic DNA. Translation: CAH70156.1. Sequence problems.
AL356055 Genomic DNA. No translation available.
AB033077 mRNA. Translation: BAA86565.1.
AB007934 mRNA. Translation: BAA32310.3.
CCDSiCCDS435.1. [Q9UPN3-2]
PIRiT00079.
RefSeqiNP_036222.3. NM_012090.5. [Q9UPN3-2]
UniGeneiHs.472475.
Hs.692278.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4Z6GX-ray2.65A74-421[»]
ProteinModelPortaliQ9UPN3.
SMRiQ9UPN3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117048. 65 interactors.
DIPiDIP-50616N.
IntActiQ9UPN3. 28 interactors.
MINTiMINT-1195815.
STRINGi9606.ENSP00000354573.

PTM databases

iPTMnetiQ9UPN3.
PhosphoSitePlusiQ9UPN3.
SwissPalmiQ9UPN3.

Polymorphism and mutation databases

BioMutaiMACF1.
DMDMi338817989.

Proteomic databases

EPDiQ9UPN3.
PaxDbiQ9UPN3.
PeptideAtlasiQ9UPN3.
PRIDEiQ9UPN3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289893; ENSP00000289893; ENSG00000127603. [Q9UPN3-5]
ENST00000361689; ENSP00000354573; ENSG00000127603. [Q9UPN3-2]
ENST00000372915; ENSP00000362006; ENSG00000127603. [Q9UPN3-1]
GeneIDi23499.
KEGGihsa:23499.
UCSCiuc031pmd.2. human. [Q9UPN3-1]

Organism-specific databases

CTDi23499.
DisGeNETi23499.
GeneCardsiMACF1.
HGNCiHGNC:13664. MACF1.
HPAiHPA013713.
MIMi608271. gene.
neXtProtiNX_Q9UPN3.
OpenTargetsiENSG00000127603.
PharmGKBiPA30518.
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000119163.
HOGENOMiHOG000049054.
HOVERGENiHBG031127.
InParanoidiQ9UPN3.
KOiK19827.
PhylomeDBiQ9UPN3.
TreeFamiTF335163.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127603-MONOMER.
ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.
SignaLinkiQ9UPN3.
SIGNORiQ9UPN3.

Miscellaneous databases

ChiTaRSiMACF1. human.
GeneWikiiMACF1.
GenomeRNAii23499.
PROiQ9UPN3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127603.
CleanExiHS_MACF1.
ExpressionAtlasiQ9UPN3. baseline and differential.
GenevisibleiQ9UPN3. HS.

Family and domain databases

CDDicd00014. CH. 2 hits.
cd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
1.10.418.10. 2 hits.
3.30.920.20. 1 hit.
3.90.1290.10. 5 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003108. GAS_dom.
IPR028408. Macf1.
IPR001101. Plectin_repeat.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view]
PANTHERiPTHR11915:SF37. PTHR11915:SF37. 6 hits.
PfamiPF00307. CH. 2 hits.
PF13499. EF-hand_7. 1 hit.
PF02187. GAS2. 1 hit.
PF00681. Plectin. 9 hits.
PF00435. Spectrin. 17 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM00054. EFh. 2 hits.
SM00243. GAS2. 1 hit.
SM00250. PLEC. 20 hits.
SM00150. SPEC. 33 hits.
[Graphical view]
SUPFAMiSSF143575. SSF143575. 1 hit.
SSF47473. SSF47473. 1 hit.
SSF47576. SSF47576. 1 hit.
SSF75399. SSF75399. 6 hits.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
PS51460. GAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMACF1_HUMAN
AccessioniPrimary (citable) accession number: Q9UPN3
Secondary accession number(s): B1ALC5
, E9PJT0, O75053, Q5VW20, Q8WXY1, Q8WXY2, Q96PK2, Q9H540, Q9UKP0, Q9ULG9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 28, 2011
Last modified: November 30, 2016
This is version 166 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.