Q9P1Z9

PR
Gene name
CCDC180 (C9orf174, KIAA1529)
Protein name
Coiled-coil domain-containing protein 180
Names
Species
Homo sapiens (Human)
KEGG Pathway
hsa:100499483
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

117-313 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9P1Z9

Entry ID Method Resolution Chain Position Source
AF-Q9P1Z9-F1 Predicted AlphaFoldDB

8 variants for Q9P1Z9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs7864805
VAR_038151
 162 P>H No UniProt
dbSNP
rs17855671
VAR_038152
 183 S>R No UniProt
dbSNP
rs10981558
VAR_038153
 234 L>H No UniProt
dbSNP
VAR_061250
rs61261278
 409 P>R No UniProt
dbSNP
VAR_038154
rs12353306
 778 E>K No UniProt
dbSNP
rs2061634
VAR_038155
 856 S>C No UniProt
dbSNP
rs3747495
VAR_038156
 1175 F>L No UniProt
dbSNP
VAR_038157
rs2306093
 1573 D>N No UniProt
dbSNP

1 associated diseases with Q9P1Z9

[MIM: 608443]: Intellectual developmental disorder, autosomal recessive 3 (MRT3)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9P1Z9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9P1Z9

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MRGGENRPPA RVQSSSEELE LRHQSLDAFP GRRLPGRGIQ PAAKMSSVGK VTQVPNGKAY
70 80 90 100 110 120
QQIFQAEVQL VHSLAATRKR AAERSVTLKS GRIPMMKKVE TPEGEVMSPR QQKWMHSLPN
130 140 150 160 170 180
DWIMENPVLH REKERAKREK ARESENTIAA REVRGLMDTI VPEKISTSTF QRQAEHKRKS
190 200 210 220 230 240
YESALASFQE EIAQVGKEME PLIVDTGGLF LKKLTESDEE MNRLFLKVEN DTNLEDYTIQ
250 260 270 280 290 300
ALLELWDKVA GRLLLRKQEI KELDEALHSL EFSRTDKLKS VLKKYAEVIE KTSYLMRPEV
310 320 330 340 350 360
YRLINEEAMV MNYALLGNRK ALAQLFVNLM ESTLQQELDS RHRWQGLVDT WKALKKEALL
370 380 390 400 410 420
QSFSEFMASE SIHTPPAVTK ELEVMLKTQN VLQQRRLKHL CTICDLLPPS YSKTQLTEWH
430 440 450 460 470 480
SSLNSLNKEL DTYHVDCMMR IRLLYEKTWQ ECLMHVQNCK KQLLDWKAFT EEEAETLVNQ
490 500 510 520 530 540
FFFQMVGALQ GKVEEDLELL DKSFETLADQ TEWQSSHLFK YFQEVVQLWE AHQSELLVQE
550 560 570 580 590 600
LELEKRMEQH RQKHSLESQV QEAHLDRLLD QLRQQSDKET LAFHLEKVKD YLKNMKSRYE
610 620 630 640 650 660
CFHTLLTKEV MEYPAIMLKE LNSYSSALSQ YFFVREIFEQ NLAGEVIFKF RQPEAHEKPS
670 680 690 700 710 720
QKRVKKLRKK QGSKEDMTRS EESISSGTST ARSVEEVEEE NDQEMESFIT EEVLGQQKKS
730 740 750 760 770 780
PLHAKMDESK EGSIQGLEEM QVEREGSLNP SLNEENVKGQ GEKKEESEEE DEKEEEEEEE
790 800 810 820 830 840
KLEEEKEEKE AQEEQESLSV GEEEDKEEGL EEIYYEDMES FTISSGNTYF VFVPLEEEHC
850 860 870 880 890 900
RKSHSTFSAM FINDTSSAKF IEQVTIPSRL ILEIKKQLRA GFFEHLEKWF DQCSLNTRVT
910 920 930 940 950 960
VATKINELDS ELELHLHLHQ PRAQQIEKDI HNVRAAELLL HQEQLDSHCA GVTETLKKKR
970 980 990 1000 1010 1020
LMFCQFQEEQ NVRSKNFRLK IYDMEHIFLN ATRSQKLVTL SNTLHQELLS YVDVTQVSLR
1030 1040 1050 1060 1070 1080
SFRQYLEESL GKLRYSNIEF IKHCRLFSEG GNFSPKEINS LCSRLEKEAA RIELVESVIM
1090 1100 1110 1120 1130 1140
LNMEKLENEY LDQANDVINK FESKFHNLSV DLIFIEKIQR LLTNLQVKIK CQVAKSNSQT
1150 1160 1170 1180 1190 1200
NGLNFSLQQL QNKIKTCQES RGEKTTVTTE ELLSFVQTWK EKLSQRIQYL NCSLDRVSMT
1210 1220 1230 1240 1250 1260
ELVFTNTILK DQEEDSDILT SSEALEEEAK LDVVTPESFT QLSRVGKPLI EDPAVDVIRK
1270 1280 1290 1300 1310 1320
LLQLPNTKWP THHCDKDPSQ TGRGAWACGS RGSSEAGAGG AVCSPPVLCS CPGPSSPKGF
1330 1340 1350 1360 1370 1380
KRHRCQPENS GKKAVPSASA TSAGSFTPHP KPNKMERKYR VLGDKPPPAA EDFKGIILTL
1390 1400 1410 1420 1430 1440
LWESSENLLT VAEEFYRKEK RPVTRPDCMC DTFDQCAENI SKKILEYQSQ ANKYHNSCLI
1450 1460 1470 1480 1490 1500
ELRIQIRRFE ELLPQVCWLV MENFKEHHWK KFFTSVKEIR GQFEEQQKRL EKRKDKNAQK
1510 1520 1530 1540 1550 1560
LHLNLGHPVH FQEMESLHLS EEERQEELDS MIRMNKEKLE ECTRRNGQVF ITNLATFTEK
1570 1580 1590 1600 1610 1620
FLLQLDEVVT IDDVQVARME PPKQKLSMLI RRKLAGLSLK EESEKPLIER GSRKWPGIKP
1630 1640 1650 1660 1670 1680
TEVTIQNKIL LQPTSSISTT KTTLGHLAAV EARDAVYLKY LASFEEELKR IQDDCTSQIK
1690 1700
EAQRWKDSWK QSLHTIQGLY V