------------------------------------------------------------------------------ SWISS-PROT Protein Sequence Data Bank. Release 36.0, July 1998 ------------------------------------------------------------------------------ Index of protein sequence entries encoded on human chromosome 21 ------------------------------------------------------------------------------ Amos Bairoch Email: bairoch@medecine.unige.ch Swiss Institute of Bioinformatics and University of Geneva Switzerland ------------------------------------------------------------------------------ Document name: HUMCHR21.TXT ------------------------------------------------------------------------------ This documents lists all the human protein sequence entries whose gene are known to be encoded on chromosome 21 in this release of SWISS-PROT. All inquiries, updates and comments about this document should be sent to: Stylianos Antonarakis E-mail: stylianos.antonarakis@medecine.unige.ch For more information on chromosome 21 see: ERI : http://www-eri.uchsc.edu/chr21/c21index.html MPIMG: http://chr21.rz-berlin.mpg.de/ Tokyo: http://seqmap21.genome.ad.jp:8001/ ------- ------------- ------------------ ------ ------------------------------------------------------------ Gene Position SWISS-PROT MIM Description name AC Entry name code ------- ------------- ------------------ ------ ------------------------------------------------------------ ADARB1 21q22.3 P78563 RED1_HUMAN 601218 Double-stranded RNA-specific editase 1 (EC 3.5.-.-) (dsRNA adenosine deaminase) (RNA editing enzyme 1) (RED1) (DRADA2). AIRE 21q22.3 O43918 AIRE_HUMAN 240300 Autoimmune regulator (APECED protein). APP 21q21.2 P05067 A4_HUMAN 104760 Amyloid a4 protein (beta-APP). ATP5O 21q22.1-2 P48047 ATPO_HUMAN 600828 ATP synthase oligomycin sensitivity conferral protein, mitochondrial (OSCP). BACH1 21q22.1 O14867 BAC1_HUMAN ? Transcription regulator protein BACH1 (Btb and cnc homolog 1). BTG3 21q11.2-q21.1 Q14201 BTG3_HUMAN ? BTG3 protein (TOB5 protein) (Abundant in Neuroepithelium Area protein). C21ORF1 21q22.3 P53801 C211_HUMAN ? Putative surface glycoprotein c21orf1 (c21orf3). C21ORF2 21q22.3 O43822 C212_HUMAN ? 28.3 Kd protein c21orf2. C21ORF4 21 P56557 C214_HUMAN ? 17.9 Kd membrane protein c21orf4. CAF1A 21q22.2 Q13112 CAFA_HUMAN 601245 Chromatin assembly factor I p60 subunit (CAF-I 60 Kd subunit). CBFA2 21q22.1 Q01196 AML1_HUMAN 151385 Acute myeloid leukemia 1 protein (AML1). CBR1 21q22.3 P16152 DHCA_HUMAN 114830 Carbonyl reductase 1 (NADPH) (EC 1.1.1.184) (CBR). CBR2 21q22.3 ? ? ? Carbonyl reductase 2 (NADPH) (EC 1.1.1.184). CBS 21q22.3 P35520 CBS_HUMAN 236200 Cystathionine beta-synthase (EC 4.2.1.22). CCT8 21 P50990 TCPQ_HUMAN ? T-complex protein 1, theta subunit (TCP-1-theta) (CCT-theta) (KIAA0002). CNN2 21q11 Q99439 CLP2_HUMAN 602373 Calponin H2, smooth muscle. COL6A1 21q22.3 P12109 CA16_HUMAN 120220 Collagen VI, alpha-1 chain. COL6A2 21q22.3 P12110 CA26_HUMAN 120240 Collagen VI, alpha-2 chain. COL18A1 21q22.3 P39060 CA1H_HUMAN 120328 Collagen XVIII, alpha-1 chain. CRFB4 21q22.1 Q08334 CRF4_HUMAN 123889 Cytokine receptor, family II CRF2-4. CRYAA 21q22.3 P02489 CRAA_HUMAN 123580 Alpha crystallin A chain (CRYA1). CSTB 21q22.3 P04080 CYTB_HUMAN 601145 Cystatin B (Stefin B) (CST6). CTBP2 21q21.3 P56545 CTB2_HUMAN 602619 C-terminal binding protein 2. DCRA 21q22.2 O14972 DCRA_HUMAN ? Down syndrome critical region protein A. DCRB 21q22.2 P56555 DCRB_HUMAN ? Down syndrome critical region protein B. DSCAM 21q22.2-3 ? ? 602523 Down syndrome cell adhesion molecule. DSCR1 21q22.1-2 P53805 DSR1_HUMAN ? Down syndrome critical region protein 1. E4TF1A 21q21.2 Q06546 GABA_HUMAN 600609 GA-binding protein transcription factor, alpha subunit (E4TF1-60) (GABPA). ERG 21q22.3 P11308 ERG_HUMAN 165080 Transforming protein erg. ETS2 21q22.3 P15036 ETS2_HUMAN 164740 Oncogene c-ETS-2. EZH2 21q22.2 ? EZH2_HUMAN 601573 Enhancer of zeste homolog 2. GART 21q22.1 P22102 PUR2_HUMAN 138440 Purine biosynthesis GARS/AIRS/GART (PRGS). GRIK1 21q22.1-2 P39086 GLK1_HUMAN 138245 Glutamate receptor, ionotropic kainate 1 (Glutamate receptor 5) (GLUR-5) (Excitatory amino acid receptor 3) (EAA3) (GLUR5). HES1 21q22.3 P55346 ES1_HUMAN 601827 ES1 protein homolog (Protein KNP-I) (GT335). HLCS 21q22.2 P50747 BPL1_HUMAN 253270 Biotin--protein ligase (Holocarboxylase synthetase) (HCS). HMG14 21q22.3 P05114 HG14_HUMAN 163920 Nonhistone chromosomal protein HMG-14. IFNAR1 21q22.1 P17181 INR1_HUMAN 107450 Interferon-alpha/beta receptor alpha chain. IFNAR2 21q22.1 P48551 INR2_HUMAN 602376 Interferon-alpha/beta receptor beta chain. IFNGT1 21q22.1 P38484 INGS_HUMAN 147569 Interferon-gamma receptor beta chain. ITGB2 21q22.3 P05107 ITB2_HUMAN 600065 Integrin beta-2 (CD18 antigen). JNK3A 21q21 P53779 JNK3_HUMAN ? Stress-activated protein kinase JNK3 alpha (EC 2.7.1.-) (c-JUN N-terminal kinase 3) (MAP kinase p49 3F12). KCNE1 21q22.1-2 P15382 MINK_HUMAN 176261 Isk slow voltage-gated potassium channel protein. KCNJ6 21q22.2 P48051 IRK6_HUMAN 600854 G protein-activated potassium channel, inwardly rectifying, subfamily J, member 6 (GIRK2) (KCNJ7). KCNJ15 21q22.2 Q99712 IRKF_HUMAN 602106 ATP-sensitive inward rectifier potassium channel 15 (Inward rectifier potassium channel Kir4.2) (Kir 1.3) (KCNJ14). MNBH 21q22.2 Q13627 MNB_HUMAN 600855 Serine/threonine-specific protein kinase minibrain homolog (MNB). MX1 21q22.3 P20591 MX1_HUMAN 147150 Interferon-regulated resistance GTP-binding protein MxA. MX2 21q22.3 P20592 MX2_HUMAN 147890 Interferon-regulated resistance GTP-binding protein MxB. NCAM2 21q21 O15394 NCM2_HUMAN 602040 Neural cell adhesion molecule 2 (N-CAM 2). NDUFA6 21q22 P56556 NB4M_HUMAN 602138 NADH-ubiquinone oxidoreductase b14 subunit (EC 1.6.5.3). NDUFV3 21q22.3 P56181 NUOM_HUMAN 602184 NADH-ubiquinone oxidoreductase 9 Kd subunit (EC 1.6.5.3). NNP1 21q22.3 P56182 NNP1_HUMAN ? NNP-1 protein (D21S2056E). OSC 21q22.3 P48449 ERG7_HUMAN 600909 Lanosterol synthase (EC 5.4.99.7) (LSS). PCNT 21q22.3-qter ? ? 170285 Pericentrin. PCP4 21q22.2-3 P48539 PE19_HUMAN 601629 Brain specific polypeptide PEP-19 (PEP19). PKH 21q22.3 O00764 PDXK_HUMAN 179020 Pyridoxine kinase (EC 2.7.1.35) (Pyridoxal kinase) (PNK). PFKL 21q22.3 P17858 K6PL_HUMAN 171860 Phosphofructokinase, liver type. PKNOX1 21q22.3 P55347 PNX1_HUMAN 602100 Homeobox protein PKNOX1 (Homeobox protein Prep-1). PRKCM 21 Q15139 KPCM_HUMAN ? Protein kinase C, mu type (EC 2.7.1.-) (NPKC-mu). PRMT2 21q22.3 P55345 ANM2_HUMAN 601961 Protein arginine N-methyltransferase 2 (EC 2.1.1.-) (HRMT1L1) (HMT1). PRSS7 21q21 P98073 ENTK_HUMAN 226200 Enteropeptidase (EC 3.4.21.9) (enterokinase) (ENTK). PSMD4 21 P55036 PRS5_HUMAN 601648 26S proteasome regulatory subunit S5A (Multiubiquitin chain binding protein) (Antisecretory factor-1). PWP2 21q22.3 Q15269 PWP2_HUMAN 601475 Periodic tryptophan protein 2. RIP140 21q11.2 P48552 RI14_HUMAN 602490 Nuclear factor RIP140. S100B 21q22.3 P04271 S10B_HUMAN 176990 S-100 protein, beta chain. SH3BGR 21q22.3 P55822 SH3B_HUMAN 602230 SH3BGR protein (21-glutamic acid-rich protein) (21-garp). SH3D1A 21q22.1-2 Q15811 SH17_HUMAN 602442 SH3 domain-containing protein SH3P17. SIM2 21q22.2 Q14190 SIM2_HUMAN 600892 Single-minded homolog 2. SLC5A3 21q22.1 P53794 SL53_HUMAN 600444 Osmoregulatory Na(+)/myo-inositol cotransporter. SLC19A1 21q22.3 P41440 FLO1_HUMAN 600424 Placental folate transporter (FLOT1). SMT3H1 21q22.3 P55854 SM31_HUMAN 602231 Ubiquitin-like protein SMT3A. SOD1 21q22.1 P00441 SODC_HUMAN 147450 Superoxide dismutase (Cu-Zn). SON 21q22.1-2 P18583 SON_HUMAN 182465 SON protein. SP17 21 Q15506 SP17_HUMAN ? Sperm surface protein sp17. STCH 21q11.1 P48723 STCH_HUMAN 601100 Microsomal stress 70 protein ATPase core. TFF1 21q22.3 P04155 PS2_HUMAN 113710 pS2 protein (Breast cancer estrogen-inducible protein) (BCE1). TFF2 21q22.3 Q03403 SP_HUMAN 182590 Spasmolytic polypeptide (SP) (SML1). TFF3 21q22.3 Q07654 ITF_HUMAN 600633 Intestinal trefoil factor (ITF). TIAM1 21q22.1 Q13009 TIAM_HUMAN 600687 T-lymphoma invasion and metastasis inducing protein 1 (TIAM1 protein). TMEM1 21q22.3 P48553 EHO1_HUMAN 602103 Epilepsy Holoprosencephaly candidate-1 (EHOC-1) (EHOC1). TMPRSS2 21q22.3 O15393 TMS2_HUMAN 602060 Transmembrane protease, serine 2 (EC 3.4.21.-). TTC3 21q22.2 P53804 TTC3_HUMAN 602259 Tetratricopeptide repeat domain 3 (TPR repeat protein D) (TPRD). U2AF1 21q22.3 Q01081 U2AG_HUMAN 191317 Splicing factor U2AF 35 Kd subunit (U2AF35). UBE2G2 21q22.3 P56554 UBCJ_HUMAN ? Ubiquitin-conjugating enzyme E2 G2 (EC 6.3.2.19) (Ubiquitin-protein ligase) (Ubiquitin carrier protein). VDAC2 21 P45880 POR2_HUMAN 193245 Voltage-dependent anion-selective channel protein 2 (VDAC2) (Outer mitochondrial membrane protein porin 2). WHT1 21q22.3 P45844 WHIT_HUMAN ? White protein homolog. WRB 21q22.3 O00258 WRB_HUMAN ? Tryptophan-rich protein (Congenital heart disease 5 protein) (CHD5). ? 21 Q14149 Y136_HUMAN ? Hypothetical protein KIAA0136. ? 21 Q14684 Y179_HUMAN ? Hypothetical protein KIAA0179. ? 21 O43295 Y411_HUMAN ? Hypothetical protein KIAA0411. ? 21 ? ? ? Hypothetical protein KIAA0539. ? 21 ? ? ? Hypothetical protein KIAA0572.